ClinVar

NM_017849.4(TMEM127):c.590G>A (p.Arg197His)

Gene:

TMEM127:transmembrane protein 127 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

• Chr2: 96253935 (on Assembly GRCh38)
• Chr2: 96919673 (on Assembly GRCh37)

Preferred name:

NM_017849.4(TMEM127):c.590G>A (p.Arg197His)

HGVS:

• NC_000002.12:g.96253935C>T
• NG_027695.1:g.17079G>A
• NM_001193304.3:c.590G>A
• NM_017849.4:c.590G>AMANE SELECT
• NP_001180233.1:p.Arg197His
• NP_060319.1:p.Arg197His
• NP_060319.1:p.Arg197His
• LRG_528t1:c.590G>A
• LRG_528:g.17079G>A
• LRG_528p1:p.Arg197His
• NC_000002.11:g.96919673C>T
• NM_017849.3:c.590G>A

This HGVS expression did not pass validation

Protein change:

R197H

Links:

dbSNP: rs1231066976

NCBI 1000 Genomes Browser:

rs1231066976

Molecular consequence:

• NM_001193304.3:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017849.4:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]