ClinVar

NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile)

Genes:

LOC130059837:ATAC-STARR-seq lymphoblastoid active region 11420 [Gene]
FANCA:FA complementation group A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89764999 (on Assembly GRCh38)
• Chr16: 89831407 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile)

HGVS:

• NC_000016.10:g.89764999C>A
• NG_011706.1:g.56659G>T
• NM_000135.4:c.2669G>TMANE SELECT
• NM_001286167.3:c.2669G>T
• NP_000126.2:p.Ser890Ile
• NP_001273096.1:p.Ser890Ile
• LRG_495t1:c.2669G>T
• LRG_495:g.56659G>T
• NC_000016.9:g.89831407C>A
• NM_000135.2:c.2669G>T

This HGVS expression did not pass validation

Protein change:

S890I

Links:

dbSNP: rs1055448646

NCBI 1000 Genomes Browser:

rs1055448646

Molecular consequence:

• NM_000135.4:c.2669G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286167.3:c.2669G>T - missense variant - [Sequence Ontology: SO:0001583]