ClinVar

NM_000136.3(FANCC):c.1540C>T (p.His514Tyr)

Genes:

FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95101844 (on Assembly GRCh38)
• Chr9: 97864126 (on Assembly GRCh37)

Preferred name:

NM_000136.3(FANCC):c.1540C>T (p.His514Tyr)

HGVS:

• NC_000009.12:g.95101844G>A
• NG_011707.1:g.220866C>T
• NM_000136.3:c.1540C>TMANE SELECT
• NM_001243743.2:c.1540C>T
• NP_000127.2:p.His514Tyr
• NP_001230672.1:p.His514Tyr
• LRG_497t1:c.1540C>T
• LRG_497:g.220866C>T
• NC_000009.11:g.97864126G>A
• NM_000136.2:c.1540C>T

This HGVS expression did not pass validation

Protein change:

H514Y

Links:

dbSNP: rs749319183

NCBI 1000 Genomes Browser:

rs749319183

Molecular consequence:

• NM_000136.3:c.1540C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243743.2:c.1540C>T - missense variant - [Sequence Ontology: SO:0001583]