ClinVar

NM_000171.4(GLRA1):c.-196C>T

Gene:

GLRA1:glycine receptor alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.1

Genomic location:

• Chr5: 151924745 (on Assembly GRCh38)
• Chr5: 151304306 (on Assembly GRCh37)

Preferred name:

NM_000171.4(GLRA1):c.-196C>T

HGVS:

• NC_000005.10:g.151924745G>A
• NG_011764.1:g.5092C>T
• NM_000171.4:c.-196C>TMANE SELECT
• NM_001146040.2:c.-196C>T
• NM_001292000.2:c.-317C>T
• NC_000005.9:g.151304306G>A
• NM_000171.3:c.-196C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2071221

NCBI 1000 Genomes Browser:

rs2071221

Molecular consequence:

• NM_000171.4:c.-196C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001146040.2:c.-196C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001292000.2:c.-317C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]