ClinVar

NM_024675.4(PALB2):c.850A>G (p.Thr284Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 23635696 (on Assembly GRCh38)
• Chr16: 23647017 (on Assembly GRCh37)

Preferred name:

NM_024675.4(PALB2):c.850A>G (p.Thr284Ala)

HGVS:

• NC_000016.10:g.23635696T>C
• NG_007406.1:g.10662A>G
• NM_024675.4:c.850A>GMANE SELECT
• NP_078951.2:p.Thr284Ala
• NP_078951.2:p.Thr284Ala
• LRG_308t1:c.850A>G
• LRG_308:g.10662A>G
• LRG_308p1:p.Thr284Ala
• NC_000016.9:g.23647017T>C
• NM_024675.3:c.850A>G

This HGVS expression did not pass validation

Protein change:

T284A

Links:

dbSNP: rs1555461584

NCBI 1000 Genomes Browser:

rs1555461584

Molecular consequence:

• NM_024675.4:c.850A>G - missense variant - [Sequence Ontology: SO:0001583]