ClinVar

NM_000136.3(FANCC):c.1593C>T (p.Tyr531=)

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: 95101791 (on Assembly GRCh38)
• Chr9: 97864073 (on Assembly GRCh37)

Preferred name:

NM_000136.3(FANCC):c.1593C>T (p.Tyr531=)

HGVS:

• NC_000009.12:g.95101791G>A
• NG_011707.1:g.220919C>T
• NM_000136.3:c.1593C>TMANE SELECT
• NM_001243743.2:c.1593C>T
• NP_000127.2:p.Tyr531=
• NP_001230672.1:p.Tyr531=
• LRG_497t1:c.1593C>T
• LRG_497:g.220919C>T
• NC_000009.11:g.97864073G>A
• NM_000136.2:c.1593C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs758842354

NCBI 1000 Genomes Browser:

rs758842354

Molecular consequence:

• NM_000136.3:c.1593C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243743.2:c.1593C>T - synonymous variant - [Sequence Ontology: SO:0001819]