ClinVar

NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)

Genes:

LOC107303338:3p25 FANCD2 Alu-mediated recombination region [Gene]
FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10043144 (on Assembly GRCh38)
• Chr3: 10084828 (on Assembly GRCh37)

Preferred name:

NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)

HGVS:

• NC_000003.12:g.10043144G>A
• NG_007311.1:g.21716G>A
• NG_046754.1:g.12298G>A
• NM_001018115.3:c.983G>AMANE SELECT
• NM_001319984.2:c.983G>A
• NM_001374253.1:c.983G>A
• NM_001374254.1:c.983G>A
• NM_033084.6:c.983G>A
• NP_001018125.1:p.Arg328Gln
• NP_001306913.1:p.Arg328Gln
• NP_001361182.1:p.Arg328Gln
• NP_001361183.1:p.Arg328Gln
• NP_149075.2:p.Arg328Gln
• LRG_306t2:c.983G>A
• LRG_306:g.21716G>A
• NC_000003.11:g.10084828G>A
• NM_033084.3:c.983G>A
• NM_033084.4:c.983G>A
• Q9BXW9:p.Arg328Gln

This HGVS expression did not pass validation

Protein change:

R328Q

Links:

UniProtKB: Q9BXW9#VAR_025832; dbSNP: rs35625434

NCBI 1000 Genomes Browser:

rs35625434

Molecular consequence:

• NM_001018115.3:c.983G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319984.2:c.983G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374253.1:c.983G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374254.1:c.983G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033084.6:c.983G>A - missense variant - [Sequence Ontology: SO:0001583]