ClinVar

NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)

Gene:

PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 23621362 (on Assembly GRCh38)
• Chr16: 23632683 (on Assembly GRCh37)

Preferred name:

NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)

Other names:

PALB2, TRP1038TER (rs180177132); p.W1038*:TGG>TAG; NM_024675.3(PALB2):c.3113G>A; p.Trp1038Ter

HGVS:

• NC_000016.10:g.23621362C>T
• NG_007406.1:g.24996G>A
• NM_024675.4:c.3113G>AMANE SELECT
• NP_078951.2:p.Trp1038Ter
• NP_078951.2:p.Trp1038Ter
• LRG_308t1:c.3113G>A
• LRG_308:g.24996G>A
• LRG_308p1:p.Trp1038Ter
• NC_000016.9:g.23632683C>T
• NM_024675.3:c.3113G>A
• p.Trp1038*
• p.Trp1038Stop
• p.W1038*

This HGVS expression did not pass validation

Protein change:

W1038*; TRP1038TER

Links:

OMIM: 610355.0013; dbSNP: rs180177132

NCBI 1000 Genomes Browser:

rs180177132

Molecular consequence:

• NM_024675.4:c.3113G>A - nonsense - [Sequence Ontology: SO:0001587]