ClinVar

NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter)

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: 89764989 (on Assembly GRCh38)
• Chr16: 89831397 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter)

HGVS:

• NC_000016.10:g.89764989C>T
• NG_011706.1:g.56669G>A
• NM_000135.4:c.2679G>AMANE SELECT
• NM_001286167.3:c.2679G>A
• NP_000126.2:p.Trp893Ter
• NP_001273096.1:p.Trp893Ter
• LRG_495t1:c.2679G>A
• LRG_495:g.56669G>A
• NC_000016.9:g.89831397C>T
• NM_000135.2:c.2679G>A

This HGVS expression did not pass validation

Protein change:

W893*

Links:

dbSNP: rs2143288874

NCBI 1000 Genomes Browser:

rs2143288874

Molecular consequence:

• NM_000135.4:c.2679G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001286167.3:c.2679G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1