ClinVar

NM_000136.3(FANCC):c.1623T>G (p.Pro541=)

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: 95101761 (on Assembly GRCh38)
• Chr9: 97864043 (on Assembly GRCh37)

Preferred name:

NM_000136.3(FANCC):c.1623T>G (p.Pro541=)

HGVS:

• NC_000009.12:g.95101761A>C
• NG_011707.1:g.220949T>G
• NM_000136.3:c.1623T>GMANE SELECT
• NM_001243743.2:c.1623T>G
• NP_000127.2:p.Pro541=
• NP_001230672.1:p.Pro541=
• LRG_497t1:c.1623T>G
• LRG_497:g.220949T>G
• NC_000009.11:g.97864043A>C
• NM_000136.2:c.1623T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs375362894

NCBI 1000 Genomes Browser:

rs375362894

Molecular consequence:

• NM_000136.3:c.1623T>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243743.2:c.1623T>G - synonymous variant - [Sequence Ontology: SO:0001819]