ClinVar

NM_024675.4(PALB2):c.1454C>T (p.Thr485Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 23635092 (on Assembly GRCh38)
• Chr16: 23646413 (on Assembly GRCh37)

Preferred name:

NM_024675.4(PALB2):c.1454C>T (p.Thr485Ile)

HGVS:

• NC_000016.10:g.23635092G>A
• NG_007406.1:g.11266C>T
• NM_024675.4:c.1454C>TMANE SELECT
• NP_078951.2:p.Thr485Ile
• NP_078951.2:p.Thr485Ile
• LRG_308t1:c.1454C>T
• LRG_308:g.11266C>T
• LRG_308p1:p.Thr485Ile
• NC_000016.9:g.23646413G>A
• NM_024675.3:c.1454C>T
• p.T485I

This HGVS expression did not pass validation

Protein change:

T485I

Links:

dbSNP: rs786202699

NCBI 1000 Genomes Browser:

rs786202699

Molecular consequence:

• NM_024675.4:c.1454C>T - missense variant - [Sequence Ontology: SO:0001583]