ClinVar

NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)

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: 95111502 (on Assembly GRCh38)
• Chr9: 97873784 (on Assembly GRCh37)

Preferred name:

NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)

HGVS:

• NC_000009.12:g.95111502G>T
• NG_011707.1:g.211208C>A
• NM_000136.3:c.1290C>AMANE SELECT
• NM_001243743.2:c.1290C>A
• NM_001243744.2:c.1290C>A
• NP_000127.2:p.Tyr430Ter
• NP_001230672.1:p.Tyr430Ter
• NP_001230673.1:p.Tyr430Ter
• LRG_497t1:c.1290C>A
• LRG_497:g.211208C>A
• NC_000009.11:g.97873784G>T
• NM_000136.2:c.1290C>A

This HGVS expression did not pass validation

Protein change:

Y430*

Links:

dbSNP: rs766105286

NCBI 1000 Genomes Browser:

rs766105286

Molecular consequence:

• NM_000136.3:c.1290C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001243743.2:c.1290C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001243744.2:c.1290C>A - nonsense - [Sequence Ontology: SO:0001587]