ClinVar

NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 23621372 (on Assembly GRCh38)
• Chr16: 23632693 (on Assembly GRCh37)

Preferred name:

NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe)

HGVS:

• NC_000016.10:g.23621372T>A
• NG_007406.1:g.24986A>T
• NM_024675.4:c.3103A>TMANE SELECT
• NP_078951.2:p.Ile1035Phe
• NP_078951.2:p.Ile1035Phe
• LRG_308t1:c.3103A>T
• LRG_308:g.24986A>T
• LRG_308p1:p.Ile1035Phe
• NC_000016.9:g.23632693T>A
• NM_024675.3:c.3103A>T

This HGVS expression did not pass validation

Protein change:

I1035F

Links:

dbSNP: rs863224783

NCBI 1000 Genomes Browser:

rs863224783

Molecular consequence:

• NM_024675.4:c.3103A>T - missense variant - [Sequence Ontology: SO:0001583]