ClinVar

NM_000405.5(GM2A):c.*227A>G

Gene:

GM2A:ganglioside GM2 activator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.1

Genomic location:

• Chr5: 151267678 (on Assembly GRCh38)
• Chr5: 150647239 (on Assembly GRCh37)

Preferred name:

NM_000405.5(GM2A):c.*227A>G

HGVS:

• NC_000005.10:g.151267678A>G
• NG_009059.1:g.19627A>G
• NM_000405.5:c.*227A>GMANE SELECT
• NM_001167607.3:c.*38A>G
• NC_000005.9:g.150647239A>G
• NM_000405.4:c.*227A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs989

NCBI 1000 Genomes Browser:

rs989

Molecular consequence:

• NM_000405.5:c.*227A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001167607.3:c.*38A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]