ClinVar

NM_020433.5(JPH2):c.1179C>T (p.His393=)

Gene:

JPH2:junctophilin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 44118614 (on Assembly GRCh38)
• Chr20: 42747254 (on Assembly GRCh37)

Preferred name:

NM_020433.5(JPH2):c.1179C>T (p.His393=)

Other names:

p.H393H:CAC>CAT

HGVS:

• NC_000020.11:g.44118614G>A
• NG_031867.1:g.73965C>T
• NM_020433.5:c.1179C>TMANE SELECT
• NP_065166.2:p.His393=
• NP_065166.2:p.His393=
• LRG_394t1:c.1179C>T
• LRG_394:g.73965C>T
• LRG_394p1:p.His393=
• NC_000020.10:g.42747254G>A
• NM_020433.4:c.1179C>T
• NM_175913.3:c.*59348C>T
• p.His393His

This HGVS expression did not pass validation

Links:

dbSNP: rs7268512

NCBI 1000 Genomes Browser:

rs7268512

Molecular consequence:

• NM_020433.5:c.1179C>T - synonymous variant - [Sequence Ontology: SO:0001819]