ClinVar

NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89746673 (on Assembly GRCh38)
• Chr16: 89813081 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg)

HGVS:

• NC_000016.10:g.89746673A>G
• NG_011706.1:g.74985T>C
• NM_000135.4:c.3424T>CMANE SELECT
• NM_001286167.3:c.3424T>C
• NP_000126.2:p.Cys1142Arg
• NP_001273096.1:p.Cys1142Arg
• LRG_495t1:c.3424T>C
• LRG_495:g.74985T>C
• NC_000016.9:g.89813081A>G
• NM_000135.2:c.3424T>C

This HGVS expression did not pass validation

Protein change:

C1142R

Links:

dbSNP: rs2038401184

NCBI 1000 Genomes Browser:

rs2038401184

Molecular consequence:

• NM_000135.4:c.3424T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286167.3:c.3424T>C - missense variant - [Sequence Ontology: SO:0001583]