ClinVar

NM_001105556.3(THEMIS2):c.1859C>A (p.Pro620His)

Gene:

THEMIS2:thymocyte selection associated family member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.3

Genomic location:

• Chr1: 27885434 (on Assembly GRCh38)
• Chr1: 28211945 (on Assembly GRCh37)

Preferred name:

NM_001105556.3(THEMIS2):c.1859C>A (p.Pro620His)

HGVS:

• NC_000001.11:g.27885434C>A
• NM_001039477.3:c.*3C>A
• NM_001105556.3:c.1859C>AMANE SELECT
• NM_001286113.2:c.1472C>A
• NM_001286115.2:c.1271C>A
• NM_004848.4:c.*3C>A
• NP_001099026.1:p.Pro620His
• NP_001273042.1:p.Pro491His
• NP_001273044.1:p.Pro424His
• NC_000001.10:g.28211945C>A
• NM_001105556.1:c.1859C>A

This HGVS expression did not pass validation

Protein change:

P424H

Molecular consequence:

• NM_001039477.3:c.*3C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_004848.4:c.*3C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001105556.3:c.1859C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286113.2:c.1472C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286115.2:c.1271C>A - missense variant - [Sequence Ontology: SO:0001583]