The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_005343.3(HRAS):c.175G>A (p.Ala59Thr)
- Curation Version - 3.0
- Curation History
- JSON LD for Version 3.0
CA176353
40435 (ClinVar)
Gene: HRAS
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 2bb21939-344a-41a8-be46-3787926538b9
Approved on: 2024-09-17
Published on: 2024-10-02
HGVS expressions
NM_005343.3:c.175G>A
NM_005343.3(HRAS):c.175G>A (p.Ala59Thr)
NC_000011.10:g.533881C>T
CM000673.2:g.533881C>T
NC_000011.9:g.533881C>T
CM000673.1:g.533881C>T
NC_000011.8:g.523881C>T
NG_007666.1:g.6670G>A
ENST00000397594.7:c.175G>A
ENST00000417302.7:c.175G>A
ENST00000417302.6:c.175G>A
ENST00000462734.2:c.175G>A
ENST00000311189.8:c.175G>A
ENST00000311189.7:c.175G>A
ENST00000397594.5:c.175G>A
ENST00000397596.6:c.175G>A
ENST00000417302.5:c.175G>A
ENST00000451590.5:c.175G>A
ENST00000468682.2:n.663G>A
ENST00000479482.1:n.96G>A
ENST00000493230.5:c.175G>A
NM_001130442.1:c.175G>A
NM_005343.2:c.175G>A
NM_176795.3:c.175G>A
NM_001130442.2:c.175G>A
NM_001318054.1:c.-145G>A
NM_176795.4:c.175G>A
NM_005343.4:c.175G>A
NM_001318054.2:c.-145G>A
NM_001130442.3:c.175G>A
NM_176795.5:c.175G>A
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Evidence submitted by expert panel
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