ClinVar

NM_000135.4(FANCA):c.66G>A (p.Trp22Ter)

Genes:

FANCA:FA complementation group A [Gene - OMIM - HGNC]
LOC112486223:Sharpr-MPRA regulatory region 3988 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89816550 (on Assembly GRCh38)
• Chr16: 89882958 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.66G>A (p.Trp22Ter)

HGVS:

• NC_000016.10:g.89816550C>T
• NG_011706.1:g.5108G>A
• NG_056867.1:g.70C>T
• NM_000135.4:c.66G>AMANE SELECT
• NM_001018112.3:c.66G>A
• NM_001286167.3:c.66G>A
• NM_001351830.2:c.66G>A
• NP_000126.2:p.Trp22Ter
• NP_001018122.1:p.Trp22Ter
• NP_001273096.1:p.Trp22Ter
• NP_001338759.1:p.Trp22Ter
• LRG_495t1:c.66G>A
• LRG_495:g.5108G>A
• NC_000016.9:g.89882958C>T
• NM_000135.2:c.66G>A

This HGVS expression did not pass validation

Protein change:

W22*

Links:

dbSNP: rs2041138210

NCBI 1000 Genomes Browser:

rs2041138210

Molecular consequence:

• NM_000135.4:c.66G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001018112.3:c.66G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001286167.3:c.66G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351830.2:c.66G>A - nonsense - [Sequence Ontology: SO:0001587]