ClinVar

NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys)

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: 95101823 (on Assembly GRCh38)
• Chr9: 97864105 (on Assembly GRCh37)

Preferred name:

NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys)

HGVS:

• NC_000009.12:g.95101823C>T
• NG_011707.1:g.220887G>A
• NG_027833.2:g.380126C>T
• NG_116860.1:g.265C>T
• NM_000136.3:c.1561G>AMANE SELECT
• NM_001243743.2:c.1561G>A
• NP_000127.2:p.Glu521Lys
• NP_000127.2:p.Glu521Lys
• NP_001230672.1:p.Glu521Lys
• LRG_497t1:c.1561G>A
• LRG_497:g.220887G>A
• LRG_497p1:p.Glu521Lys
• NC_000009.11:g.97864105C>T
• NM_000136.2:c.1561G>A
• NM_001243744.1:c.*9373G>A

This HGVS expression did not pass validation

Protein change:

E521K

Links:

dbSNP: rs752855423

NCBI 1000 Genomes Browser:

rs752855423

Molecular consequence:

• NM_000136.3:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243743.2:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]