ClinVar

NM_015225.3(PRUNE2):c.337C>A (p.Leu113Met)

Gene:

PRUNE2:prune homolog 2 with BCH domain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.2

Genomic location:

• Chr9: 76850470 (on Assembly GRCh38)
• Chr9: 79465386 (on Assembly GRCh37)

Preferred name:

NM_015225.3(PRUNE2):c.337C>A (p.Leu113Met)

HGVS:

• NC_000009.12:g.76850470G>T
• NM_001308047.2:c.337C>A
• NM_001308048.2:c.337C>A
• NM_015225.3:c.337C>AMANE SELECT
• NP_001294976.1:p.Leu113Met
• NP_001294977.1:p.Leu113Met
• NP_056040.2:p.Leu113Met
• NC_000009.11:g.79465386G>T
• NM_015225.2:c.337C>A

This HGVS expression did not pass validation

Protein change:

L113M

Links:

dbSNP: rs1554808146

NCBI 1000 Genomes Browser:

rs1554808146

Molecular consequence:

• NM_001308047.2:c.337C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308048.2:c.337C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015225.3:c.337C>A - missense variant - [Sequence Ontology: SO:0001583]