ClinVar

NM_024675.4(PALB2):c.1941T>C (p.His647=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 23630213 (on Assembly GRCh38)
• Chr16: 23641534 (on Assembly GRCh37)

Preferred name:

NM_024675.4(PALB2):c.1941T>C (p.His647=)

HGVS:

• NC_000016.10:g.23630213A>G
• NG_007406.1:g.16145T>C
• NM_024675.4:c.1941T>CMANE SELECT
• NP_078951.2:p.His647=
• NP_078951.2:p.His647=
• LRG_308t1:c.1941T>C
• LRG_308:g.16145T>C
• LRG_308p1:p.His647=
• NC_000016.9:g.23641534A>G
• NM_024675.3:c.1941T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs745467835

NCBI 1000 Genomes Browser:

rs745467835

Molecular consequence:

• NM_024675.4:c.1941T>C - synonymous variant - [Sequence Ontology: SO:0001819]