ClinVar

NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 35077009 (on Assembly GRCh38)
• Chr9: 35077006 (on Assembly GRCh37)

Preferred name:

NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)

HGVS:

• NC_000009.12:g.35077009G>T
• NG_007312.1:g.8008C>A
• NG_007887.1:g.734C>A
• NM_004629.2:c.739C>AMANE SELECT
• NP_004620.1:p.Gln247Lys
• NP_004620.1:p.Gln247Lys
• LRG_499t1:c.739C>A
• LRG_499:g.8008C>A
• LRG_499p1:p.Gln247Lys
• LRG_657:g.734C>A
• NC_000009.11:g.35077006G>T
• NM_004629.1:c.739C>A

This HGVS expression did not pass validation

Protein change:

Q247K

Links:

dbSNP: rs145613634

NCBI 1000 Genomes Browser:

rs145613634

Molecular consequence:

• NM_004629.2:c.739C>A - missense variant - [Sequence Ontology: SO:0001583]