ClinVar

NM_017849.4(TMEM127):c.534C>T (p.Tyr178=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

• Chr2: 96253991 (on Assembly GRCh38)
• Chr2: 96919729 (on Assembly GRCh37)

Preferred name:

NM_017849.4(TMEM127):c.534C>T (p.Tyr178=)

HGVS:

• NC_000002.12:g.96253991G>A
• NG_027695.1:g.17023C>T
• NM_001193304.3:c.534C>T
• NM_017849.4:c.534C>TMANE SELECT
• NP_001180233.1:p.Tyr178=
• NP_060319.1:p.Tyr178=
• NP_060319.1:p.Tyr178=
• LRG_528t1:c.534C>T
• LRG_528:g.17023C>T
• LRG_528p1:p.Tyr178=
• NC_000002.11:g.96919729G>A
• NM_001193304.2:c.534C>T
• NM_017849.3:c.534C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs550833832

NCBI 1000 Genomes Browser:

rs550833832

Molecular consequence:

• NM_001193304.3:c.534C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017849.4:c.534C>T - synonymous variant - [Sequence Ontology: SO:0001819]