ClinVar

NM_000215.4(JAK3):c.2235G>A (p.Pro745=)

Gene:

JAK3:Janus kinase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

• Chr19: 17834686 (on Assembly GRCh38)
• Chr19: 17945495 (on Assembly GRCh37)

Preferred name:

NM_000215.4(JAK3):c.2235G>A (p.Pro745=)

HGVS:

• NC_000019.10:g.17834686C>T
• NG_007273.1:g.18306G>A
• NM_000215.4:c.2235G>AMANE SELECT
• NP_000206.2:p.Pro745=
• NP_000206.2:p.Pro745=
• LRG_77t1:c.2235G>A
• LRG_77:g.18306G>A
• LRG_77p1:p.Pro745=
• NC_000019.9:g.17945495C>T
• NM_000215.3:c.2235G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs149207170

NCBI 1000 Genomes Browser:

rs149207170

Molecular consequence:

• NM_000215.4:c.2235G>A - synonymous variant - [Sequence Ontology: SO:0001819]