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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Variant: NM_000277.1(PAH):c.208_210delTCT (p.Ser70del)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA229490
102632 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: ea84cf1d-348b-4e04-a809-550ce2b8d111
Approved on: 2018-08-05
Published on: 2019-08-17
HGVS expressions
NM_000277.1:c.206_208delCTT
NM_000277.1:c.208_210delTCT
NM_000277.1:c.207_209delTTC
NM_000277.1(PAH):c.208_210delTCT (p.Ser70del)
NM_000277.1:c.208_210del
NM_000277.2:c.208_210del
NM_001354304.1:c.208_210del
NM_000277.3:c.208_210del
ENST00000307000.7:c.193_195del
ENST00000546844.1:c.208_210del
ENST00000548677.2:n.295_297del
ENST00000548928.1:n.130_132del
ENST00000549111.5:n.304_306del
ENST00000550978.6:n.192_194del
ENST00000551337.5:c.208_210del
ENST00000551988.5:n.297_299del
ENST00000553106.5:c.208_210del
ENST00000635500.1:n.176_178del
NC_000012.12:g.102894879_102894881del
CM000674.2:g.102894879_102894881del
NC_000012.11:g.103288657_103288659del
CM000674.1:g.103288657_103288659del
NC_000012.10:g.101812787_101812789del
NG_008690.1:g.27724_27726del
NG_008690.2:g.68532_68534del
More
Evidence submitted by expert panel
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