ClinVar

NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)

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: 29813772 (on Assembly GRCh38)
• Chr16: 29825093 (on Assembly GRCh37)

Preferred name:

NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)

HGVS:

• NC_000016.10:g.29813772C>T
• NG_032039.1:g.6685C>T
• NM_001256442.2:c.718C>T
• NM_001256443.2:c.718C>T
• NM_145239.3:c.718C>TMANE SELECT
• NP_001243371.1:p.Arg240Ter
• NP_001243372.1:p.Arg240Ter
• NP_660282.2:p.Arg240Ter
• NC_000016.9:g.29825093C>T
• NM_145239.2:c.718C>T

This HGVS expression did not pass validation

Protein change:

R240*; ARG240TER

Links:

OMIM: 614386.0007; dbSNP: rs387907126

NCBI 1000 Genomes Browser:

rs387907126

Molecular consequence:

• NM_001256442.2:c.718C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001256443.2:c.718C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_145239.3:c.718C>T - nonsense - [Sequence Ontology: SO:0001587]