ClinVar

NM_001079.4(ZAP70):c.1764C>T (p.Thr588=)

Gene:

ZAP70:zeta chain of T cell receptor associated protein kinase 70 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

• Chr2: 97739402 (on Assembly GRCh38)
• Chr2: 98355865 (on Assembly GRCh37)

Preferred name:

NM_001079.4(ZAP70):c.1764C>T (p.Thr588=)

HGVS:

• NC_000002.12:g.97739402C>T
• NG_007727.1:g.30835C>T
• NM_001079.4:c.1764C>TMANE SELECT
• NM_001378594.1:c.1764C>T
• NM_207519.2:c.843C>T
• NP_001070.2:p.Thr588=
• NP_001070.2:p.Thr588=
• NP_001365523.1:p.Thr588=
• NP_997402.1:p.Thr281=
• LRG_126t1:c.1764C>T
• LRG_126:g.30835C>T
• LRG_126p1:p.Thr588=
• NC_000002.11:g.98355865C>T
• NM_001079.3:c.1764C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs199772588

NCBI 1000 Genomes Browser:

rs199772588

Molecular consequence:

• NM_001079.4:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378594.1:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_207519.2:c.843C>T - synonymous variant - [Sequence Ontology: SO:0001819]