ClinVar

NM_000136.3(FANCC):c.1155-38T>C

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: 95111675 (on Assembly GRCh38)
• Chr9: 97873957 (on Assembly GRCh37)

Preferred name:

NM_000136.3(FANCC):c.1155-38T>C

HGVS:

• NC_000009.12:g.95111675A>G
• NG_011707.1:g.211035T>C
• NM_000136.3:c.1155-38T>CMANE SELECT
• NM_001243743.2:c.1155-38T>C
• NM_001243744.2:c.1155-38T>C
• LRG_497t1:c.1155-38T>C
• LRG_497:g.211035T>C
• NC_000009.11:g.97873957A>G
• NM_000136.2:c.1155-38T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs4647534

NCBI 1000 Genomes Browser:

rs4647534

Molecular consequence:

• NM_000136.3:c.1155-38T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243743.2:c.1155-38T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243744.2:c.1155-38T>C - intron variant - [Sequence Ontology: SO:0001627]