ClinVar

NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)

Genes:

MVP-DT:MVP divergent transcript [Gene - HGNC]
PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 29813121 (on Assembly GRCh38)
• Chr16: 29824442 (on Assembly GRCh37)

Preferred name:

NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)

HGVS:

• NC_000016.10:g.29813121G>A
• NG_032039.1:g.6034G>A
• NM_001256442.1:c.67G>A
• NM_001256442.2:c.67G>A
• NM_001256443.2:c.67G>A
• NM_145239.3:c.67G>AMANE SELECT
• NP_001243371.1:p.Glu23Lys
• NP_001243372.1:p.Glu23Lys
• NP_660282.2:p.Glu23Lys
• NC_000016.9:g.29824442G>A
• NM_145239.2:c.67G>A

This HGVS expression did not pass validation

Protein change:

E23K

Links:

dbSNP: rs140383655

NCBI 1000 Genomes Browser:

rs140383655

Molecular consequence:

• NM_001256442.2:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256443.2:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145239.3:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

12