ClinVar

NM_000136.3(FANCC):c.1534-5T>G

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: 95101855 (on Assembly GRCh38)
• Chr9: 97864137 (on Assembly GRCh37)

Preferred name:

NM_000136.3(FANCC):c.1534-5T>G

HGVS:

• NC_000009.12:g.95101855A>C
• NG_011707.1:g.220855T>G
• NG_027833.2:g.380158A>C
• NG_116860.1:g.297A>C
• NM_000136.3:c.1534-5T>GMANE SELECT
• NM_001243743.2:c.1534-5T>G
• LRG_497t1:c.1534-5T>G
• LRG_497:g.220855T>G
• NC_000009.11:g.97864137A>C
• NM_000136.2:c.1534-5T>G
• NM_001243744.1:c.*9341T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs730881727

NCBI 1000 Genomes Browser:

rs730881727

Molecular consequence:

• NM_000136.3:c.1534-5T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243743.2:c.1534-5T>G - intron variant - [Sequence Ontology: SO:0001627]