ClinVar

NM_000520.6(HEXA):c.*436C>T

Gene:

HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

• Chr15: 72343641 (on Assembly GRCh38)
• Chr15: 72635982 (on Assembly GRCh37)

Preferred name:

NM_000520.6(HEXA):c.*436C>T

HGVS:

• NC_000015.10:g.72343641G>A
• NG_009017.2:g.37539C>T
• NM_000520.6:c.*436C>TMANE SELECT
• NM_001318825.2:c.*436C>T
• NC_000015.9:g.72635982G>A
• NG_009017.1:g.37539C>T
• NM_000520.4:c.*436C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs112626309

NCBI 1000 Genomes Browser:

rs112626309

Molecular consequence:

• NM_000520.6:c.*436C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001318825.2:c.*436C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]