ClinVar

NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu)

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: 29813278 (on Assembly GRCh38)
• Chr16: 29824599 (on Assembly GRCh37)

Preferred name:

NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu)

HGVS:

• NC_000016.10:g.29813278C>T
• NG_032039.1:g.6191C>T
• NM_001256442.2:c.224C>T
• NM_001256443.2:c.224C>T
• NM_145239.3:c.224C>TMANE SELECT
• NP_001243371.1:p.Pro75Leu
• NP_001243372.1:p.Pro75Leu
• NP_660282.2:p.Pro75Leu
• NC_000016.9:g.29824599C>T
• NM_145239.2:c.224C>T

This HGVS expression did not pass validation

Protein change:

P75L

Links:

dbSNP: rs147004110

NCBI 1000 Genomes Browser:

rs147004110

Molecular consequence:

• NM_001256442.2:c.224C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256443.2:c.224C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145239.3:c.224C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3