ClinVar

NM_004629.2(FANCG):c.616G>A (p.Val206Ile)

Gene:

FANCG:FA complementation group G [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 35077294 (on Assembly GRCh38)
• Chr9: 35077291 (on Assembly GRCh37)

Preferred name:

NM_004629.2(FANCG):c.616G>A (p.Val206Ile)

HGVS:

• NC_000009.12:g.35077294C>T
• NG_007312.1:g.7723G>A
• NG_007887.1:g.449G>A
• NM_004629.2:c.616G>AMANE SELECT
• NP_004620.1:p.Val206Ile
• LRG_499t1:c.616G>A
• LRG_499:g.7723G>A
• LRG_657:g.449G>A
• NC_000009.11:g.35077291C>T
• NM_004629.1:c.616G>A

This HGVS expression did not pass validation

Protein change:

V206I

Links:

dbSNP: rs768648609

NCBI 1000 Genomes Browser:

rs768648609

Molecular consequence:

• NM_004629.2:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]