ClinVar

NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 23621369 (on Assembly GRCh38)
• Chr16: 23632690 (on Assembly GRCh37)

Preferred name:

NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)

HGVS:

• NC_000016.10:g.23621369C>G
• NG_007406.1:g.24989G>C
• NM_024675.4:c.3106G>CMANE SELECT
• NP_078951.2:p.Val1036Leu
• NP_078951.2:p.Val1036Leu
• LRG_308t1:c.3106G>C
• LRG_308:g.24989G>C
• LRG_308p1:p.Val1036Leu
• NC_000016.9:g.23632690C>G
• NM_024675.3:c.3106G>C

This HGVS expression did not pass validation

Protein change:

V1036L

Links:

dbSNP: rs756906403

NCBI 1000 Genomes Browser:

rs756906403

Molecular consequence:

• NM_024675.4:c.3106G>C - missense variant - [Sequence Ontology: SO:0001583]