ClinVar

NM_017849.4(TMEM127):c.152C>T (p.Pro51Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

• Chr2: 96265230 (on Assembly GRCh38)
• Chr2: 96930968 (on Assembly GRCh37)

Preferred name:

NM_017849.4(TMEM127):c.152C>T (p.Pro51Leu)

HGVS:

• NC_000002.12:g.96265230G>A
• NG_027695.1:g.5784C>T
• NM_001193304.3:c.152C>T
• NM_017849.4:c.152C>TMANE SELECT
• NP_001180233.1:p.Pro51Leu
• NP_060319.1:p.Pro51Leu
• LRG_528t1:c.152C>T
• LRG_528:g.5784C>T
• NC_000002.11:g.96930968G>A
• NM_017849.3:c.152C>T

This HGVS expression did not pass validation

Protein change:

P51L

Links:

dbSNP: rs1573977765

NCBI 1000 Genomes Browser:

rs1573977765

Molecular consequence:

• NM_001193304.3:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017849.4:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]