ClinVar

NM_000136.3(FANCC):c.*7C>T

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: 95101700 (on Assembly GRCh38)
• Chr9: 97863982 (on Assembly GRCh37)

Preferred name:

NM_000136.3(FANCC):c.*7C>T

HGVS:

• NC_000009.12:g.95101700G>A
• NG_011707.1:g.221010C>T
• NM_000136.3:c.*7C>TMANE SELECT
• NM_001243743.2:c.*7C>T
• LRG_497t1:c.*7C>T
• LRG_497:g.221010C>T
• NC_000009.11:g.97863982G>A
• NM_000136.2:c.*7C>T
• NM_001243743.1:c.*7C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs372511678

NCBI 1000 Genomes Browser:

rs372511678

Molecular consequence:

• NM_000136.3:c.*7C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001243743.2:c.*7C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]