ClinVar

NM_024675.4(PALB2):c.1406G>A (p.Cys469Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 23635140 (on Assembly GRCh38)
• Chr16: 23646461 (on Assembly GRCh37)

Preferred name:

NM_024675.4(PALB2):c.1406G>A (p.Cys469Tyr)

HGVS:

• NC_000016.10:g.23635140C>T
• NG_007406.1:g.11218G>A
• NM_024675.4:c.1406G>AMANE SELECT
• NP_078951.2:p.Cys469Tyr
• LRG_308t1:c.1406G>A
• LRG_308:g.11218G>A
• NC_000016.9:g.23646461C>T
• NM_024675.3:c.1406G>A

This HGVS expression did not pass validation

Protein change:

C469Y

Links:

dbSNP: rs1966970988

NCBI 1000 Genomes Browser:

rs1966970988

Molecular consequence:

• NM_024675.4:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]