ClinVar

NM_004629.2(FANCG):c.1346C>T (p.Pro449Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 35075552 (on Assembly GRCh38)
• Chr9: 35075549 (on Assembly GRCh37)

Preferred name:

NM_004629.2(FANCG):c.1346C>T (p.Pro449Leu)

HGVS:

• NC_000009.12:g.35075552G>A
• NG_007312.1:g.9465C>T
• NG_007887.1:g.2191C>T
• NM_004629.2:c.1346C>TMANE SELECT
• NP_004620.1:p.Pro449Leu
• LRG_499t1:c.1346C>T
• LRG_499:g.9465C>T
• LRG_657:g.2191C>T
• NC_000009.11:g.35075549G>A
• NC_000009.11:g.35075549G>A
• NM_004629.1:c.1346C>T

This HGVS expression did not pass validation

Protein change:

P449L

Links:

dbSNP: rs757442131

NCBI 1000 Genomes Browser:

rs757442131

Molecular consequence:

• NM_004629.2:c.1346C>T - missense variant - [Sequence Ontology: SO:0001583]