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 computer assertion could be determined for this classification!
Variant: NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)
CA303333
189929 (ClinVar)
Gene: SCN1A
Condition: Dravet syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: df4f3335-b54c-49a2-8016-9bbc4979399e
Approved on: 2024-05-07
Published on: 2024-05-07
HGVS expressions
NM_001165963.4:c.2303C>T
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)
NC_000002.12:g.166041343G>A
CM000664.2:g.166041343G>A
NC_000002.11:g.166897853G>A
CM000664.1:g.166897853G>A
NC_000002.10:g.166606099G>A
NG_011906.1:g.37297C>T
ENST00000689288.1:c.*339C>T
ENST00000303395.9:c.2303C>T
ENST00000635750.1:c.2270C>T
ENST00000635776.1:c.2270C>T
ENST00000636194.1:c.2270C>T
ENST00000636759.1:c.*2093C>T
ENST00000637968.1:n.2555C>T
ENST00000637988.1:c.2270C>T
ENST00000640036.1:c.2270C>T
ENST00000641575.1:c.2267C>T
ENST00000641603.1:c.2303C>T
ENST00000641996.1:c.*1857C>T
ENST00000671940.1:c.*246C>T
ENST00000673490.1:n.4776C>T
ENST00000674923.1:c.2303C>T
ENST00000303395.8:c.2303C>T
ENST00000375405.7:c.2270C>T
ENST00000409050.1:c.2219C>T
ENST00000423058.6:c.2303C>T
NM_001165963.1:c.2303C>T
NM_001165964.1:c.2219C>T
NM_001202435.1:c.2303C>T
NM_006920.4:c.2270C>T
NM_001165963.2:c.2303C>T
NM_001165964.2:c.2219C>T
NM_001202435.2:c.2303C>T
NM_001353948.1:c.2303C>T
NM_001353949.1:c.2270C>T
NM_001353950.1:c.2270C>T
NM_001353951.1:c.2270C>T
NM_001353952.1:c.2270C>T
NM_001353954.1:c.2267C>T
NM_001353955.1:c.2267C>T
NM_001353957.1:c.2219C>T
NM_001353958.1:c.2219C>T
NM_001353960.1:c.2216C>T
NM_001353961.1:c.-156C>T
NM_006920.5:c.2270C>T
NR_148667.1:n.2675C>T
NM_001165963.3:c.2303C>T
NM_001165964.3:c.2219C>T
NM_001202435.3:c.2303C>T
NM_001353948.2:c.2303C>T
NM_001353949.2:c.2270C>T
NM_001353950.2:c.2270C>T
NM_001353951.2:c.2270C>T
NM_001353952.2:c.2270C>T
NM_001353954.2:c.2267C>T
NM_001353955.2:c.2267C>T
NM_001353957.2:c.2219C>T
NM_001353958.2:c.2219C>T
NM_001353960.2:c.2216C>T
NM_001353961.2:c.-156C>T
NM_006920.6:c.2270C>T
NR_148667.2:n.2656C>T
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.