ClinVar

NM_024675.4(PALB2):c.1792C>T (p.Leu598=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 23630362 (on Assembly GRCh38)
• Chr16: 23641683 (on Assembly GRCh37)

Preferred name:

NM_024675.4(PALB2):c.1792C>T (p.Leu598=)

HGVS:

• NC_000016.10:g.23630362G>A
• NG_007406.1:g.15996C>T
• NM_024675.4:c.1792C>TMANE SELECT
• NP_078951.2:p.Leu598=
• NP_078951.2:p.Leu598=
• LRG_308t1:c.1792C>T
• LRG_308:g.15996C>T
• LRG_308p1:p.Leu598=
• NC_000016.9:g.23641683G>A
• NM_024675.3:c.1792C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs746702349

NCBI 1000 Genomes Browser:

rs746702349

Molecular consequence:

• NM_024675.4:c.1792C>T - synonymous variant - [Sequence Ontology: SO:0001819]