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_000132.4(F8):c.3637del (p.Ile1213fs)
CA255146
10253 (ClinVar)
Gene: F8
Condition: hemophilia A
Inheritance Mode: X-linked inheritance
UUID: 19e2feae-a2b9-46b5-aa09-71123369b1ca
Approved on: 2024-06-25
Published on: 2024-07-10
HGVS expressions
NM_000132.4:c.3637del
NM_000132.4:c.3637delA
NM_000132.4(F8):c.3637del (p.Ile1213fs)
NC_000023.11:g.154930161del
CM000685.2:g.154930161del
NC_000023.10:g.154158436del
CM000685.1:g.154158436del
NC_000023.9:g.153811630del
NG_011403.1:g.97571del
NG_011403.2:g.97571del
ENST00000360256.9:c.3637del
ENST00000647125.1:c.*3303del
ENST00000360256.8:c.3637del
NM_000132.3:c.3637del
Evidence submitted by expert panel
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