ClinVar

NM_024675.4(PALB2):c.351T>C (p.Pro117=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 23636195 (on Assembly GRCh38)
• Chr16: 23647516 (on Assembly GRCh37)

Preferred name:

NM_024675.4(PALB2):c.351T>C (p.Pro117=)

HGVS:

• NC_000016.10:g.23636195A>G
• NG_007406.1:g.10163T>C
• NM_024675.4:c.351T>CMANE SELECT
• NP_078951.2:p.Pro117=
• NP_078951.2:p.Pro117=
• LRG_308t1:c.351T>C
• LRG_308:g.10163T>C
• LRG_308p1:p.Pro117=
• NC_000016.9:g.23647516A>G
• NM_024675.3:c.351T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs763330757

NCBI 1000 Genomes Browser:

rs763330757

Molecular consequence:

• NM_024675.4:c.351T>C - synonymous variant - [Sequence Ontology: SO:0001819]