ClinVar

NM_000136.3(FANCC):c.1418A>G (p.Gln473Arg)

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: 95107181 (on Assembly GRCh38)
• Chr9: 97869463 (on Assembly GRCh37)

Preferred name:

NM_000136.3(FANCC):c.1418A>G (p.Gln473Arg)

HGVS:

• NC_000009.12:g.95107181T>C
• NG_011707.1:g.215529A>G
• NM_000136.3:c.1418A>GMANE SELECT
• NM_001243743.2:c.1418A>G
• NP_000127.2:p.Gln473Arg
• NP_001230672.1:p.Gln473Arg
• LRG_497t1:c.1418A>G
• LRG_497:g.215529A>G
• NC_000009.11:g.97869463T>C
• NM_000136.2:c.1418A>G

This HGVS expression did not pass validation

Protein change:

Q473R

Links:

dbSNP: rs1588029264

NCBI 1000 Genomes Browser:

rs1588029264

Molecular consequence:

• NM_000136.3:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243743.2:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]