ClinVar

NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His)

Gene:

SZT2:SZT2 subunit of KICSTOR complex [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 43430742 (on Assembly GRCh38)
• Chr1: 43896413 (on Assembly GRCh37)

Preferred name:

NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His)

HGVS:

• NC_000001.11:g.43430742G>A
• NG_029091.1:g.45858G>A
• NM_001365999.1:c.4727G>AMANE SELECT
• NM_015284.4:c.4556G>A
• NP_001352928.1:p.Arg1576His
• NP_056099.3:p.Arg1519His
• NC_000001.10:g.43896413G>A
• NM_015284.3:c.4556G>A

This HGVS expression did not pass validation

Protein change:

R1519H

Links:

dbSNP: rs143935839

NCBI 1000 Genomes Browser:

rs143935839

Molecular consequence:

• NM_001365999.1:c.4727G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015284.4:c.4556G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1