ClinVar

NM_000135.4(FANCA):c.343G>A (p.Gly115Arg)

Gene:

FANCA:FA complementation group A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89811012 (on Assembly GRCh38)
• Chr16: 89877420 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.343G>A (p.Gly115Arg)

HGVS:

• NC_000016.10:g.89811012C>T
• NG_011706.1:g.10646G>A
• NM_000135.4:c.343G>AMANE SELECT
• NM_001018112.3:c.343G>A
• NM_001286167.3:c.343G>A
• NM_001351830.2:c.343G>A
• NP_000126.2:p.Gly115Arg
• NP_001018122.1:p.Gly115Arg
• NP_001273096.1:p.Gly115Arg
• NP_001338759.1:p.Gly115Arg
• LRG_495t1:c.343G>A
• LRG_495:g.10646G>A
• NC_000016.9:g.89877420C>T
• NM_000135.2:c.343G>A

This HGVS expression did not pass validation

Protein change:

G115R

Links:

dbSNP: rs769824282

NCBI 1000 Genomes Browser:

rs769824282

Molecular consequence:

• NM_000135.4:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001018112.3:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286167.3:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351830.2:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]