ClinVar

NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)

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: 29813701 (on Assembly GRCh38)
• Chr16: 29825022 (on Assembly GRCh37)

Preferred name:

NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)

Other names:

p.P216L:CCC>CTC

HGVS:

• NC_000016.10:g.29813701C>T
• NG_032039.1:g.6614C>T
• NM_001256442.2:c.647C>T
• NM_001256443.2:c.647C>T
• NM_145239.3:c.647C>TMANE SELECT
• NP_001243371.1:p.Pro216Leu
• NP_001243372.1:p.Pro216Leu
• NP_660282.2:p.Pro216Leu
• NP_660282.2:p.Pro216Leu
• NC_000016.9:g.29825022C>T
• NM_001256443.1:c.647C>T
• NM_145239.2:c.647C>T
• Q7Z6L0:p.Pro216Leu

This HGVS expression did not pass validation

Protein change:

P216L

Links:

UniProtKB: Q7Z6L0#VAR_067321; dbSNP: rs76335820

NCBI 1000 Genomes Browser:

rs76335820

Molecular consequence:

• NM_001256442.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256443.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145239.3:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1