The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- See Evidence submitted by expert panel for details.
Variant: NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA266820
93542 (ClinVar)
Gene: TCF4
Condition: Pitt-Hopkins syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: b545bd8e-c8f6-4437-a1d0-ce19966d9ce7
Approved on: 2021-03-26
Published on: 2021-05-17
HGVS expressions
NM_001083962.2:c.1733G>A
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)
ENST00000354452.8:c.1733G>A
ENST00000635822.2:c.1613G>A
ENST00000635990.2:n.1413G>A
ENST00000636400.2:c.1661G>A
ENST00000636751.2:c.*1441G>A
ENST00000636822.2:c.1343G>A
ENST00000637115.2:c.*1611G>A
ENST00000637169.2:c.1085G>A
ENST00000637239.2:n.1788G>A
ENST00000637250.2:n.1427G>A
ENST00000637923.2:n.1331G>A
ENST00000638154.3:c.1760G>A
ENST00000643689.1:c.1343G>A
ENST00000674764.1:c.*1344G>A
ENST00000675707.1:c.1343G>A
ENST00000354452.7:c.1733G>A
ENST00000356073.8:c.1721G>A
ENST00000398339.5:c.2039G>A
ENST00000457482.7:c.1253G>A
ENST00000537578.5:c.1661G>A
ENST00000537856.7:c.1331G>A
ENST00000540999.5:c.1649G>A
ENST00000543082.5:c.1595G>A
ENST00000544241.6:c.1520G>A
ENST00000561831.7:c.1241G>A
ENST00000561992.5:c.1331G>A
ENST00000562680.5:n.5256G>A
ENST00000564228.5:n.1508G>A
ENST00000564403.6:c.1751G>A
ENST00000564999.5:c.1721G>A
ENST00000565018.6:c.1469G>A
ENST00000566279.5:c.1553G>A
ENST00000566286.5:n.1712G>A
ENST00000567880.5:n.1541G>A
ENST00000568673.5:c.1661G>A
ENST00000568740.5:c.1646G>A
ENST00000570177.6:c.1331G>A
ENST00000570287.6:c.1241G>A
ENST00000616053.4:c.1469G>A
ENST00000626466.1:n.756G>A
ENST00000626584.2:c.1073G>A
ENST00000629387.2:c.1733G>A
NM_001083962.1:c.1733G>A
NM_001243226.2:c.2039G>A
NM_001243227.1:c.1661G>A
NM_001243228.1:c.1751G>A
NM_001243230.1:c.1712G>A
NM_001243231.1:c.1595G>A
NM_001243232.1:c.1520G>A
NM_001243233.1:c.1331G>A
NM_001243234.1:c.1253G>A
NM_001243235.1:c.1241G>A
NM_001243236.1:c.1241G>A
NM_001306207.1:c.1649G>A
NM_001306208.1:c.1508G>A
NM_003199.2:c.1721G>A
NM_001330604.2:c.1730G>A
NM_001330605.2:c.1343G>A
NM_001348211.1:c.1607G>A
NM_001348212.1:c.1331G>A
NM_001348213.1:c.1343G>A
NM_001348214.1:c.1238G>A
NM_001348215.1:c.1085G>A
NM_001348216.1:c.1253G>A
NM_001348217.1:c.1661G>A
NM_001348218.1:c.1661G>A
NM_001348219.1:c.1649G>A
NM_001348220.1:c.1646G>A
NM_001243226.3:c.2039G>A
NM_001243227.2:c.1661G>A
NM_001243228.2:c.1751G>A
NM_001243231.2:c.1595G>A
NM_001243233.2:c.1331G>A
NM_001243234.2:c.1253G>A
NM_001243235.2:c.1241G>A
NM_001243236.2:c.1241G>A
NM_001330604.3:c.1730G>A
NM_001330605.3:c.1343G>A
NM_001348211.2:c.1607G>A
NM_001348212.2:c.1331G>A
NM_001348213.2:c.1343G>A
NM_001348214.2:c.1238G>A
NM_001348215.2:c.1085G>A
NM_001348216.2:c.1253G>A
NM_001348218.2:c.1661G>A
NM_001348219.2:c.1649G>A
NM_001369567.1:c.1733G>A
NM_001369568.1:c.1733G>A
NM_001369569.1:c.1730G>A
NM_001369570.1:c.1730G>A
NM_001369571.1:c.1721G>A
NM_001369572.1:c.1721G>A
NM_001369573.1:c.1718G>A
NM_001369574.1:c.1718G>A
NM_001369575.1:c.1661G>A
NM_001369576.1:c.1658G>A
NM_001369577.1:c.1658G>A
NM_001369578.1:c.1658G>A
NM_001369579.1:c.1658G>A
NM_001369580.1:c.1658G>A
NM_001369581.1:c.1658G>A
NM_001369582.1:c.1649G>A
NM_001369583.1:c.1649G>A
NM_001369584.1:c.1646G>A
NM_001369585.1:c.1646G>A
NM_001369586.1:c.1664G>A
NM_003199.3:c.1721G>A
NM_001243230.2:c.1712G>A
NC_000018.10:g.55228993C>T
CM000680.2:g.55228993C>T
NC_000018.9:g.52896224C>T
CM000680.1:g.52896224C>T
NC_000018.8:g.51047222C>T
NG_011716.1:g.364637G>A
NG_011716.2:g.412001G>A
More
Evidence submitted by expert panel
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