ClinVar

NM_000520.6(HEXA):c.1073+1G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

• Chr15: 72348047 (on Assembly GRCh38)
• Chr15: 72640388 (on Assembly GRCh37)

Preferred name:

NM_000520.6(HEXA):c.1073+1G>T

HGVS:

• NC_000015.10:g.72348047C>A
• NG_009017.2:g.33133G>T
• NG_009017.3:g.32967G>T
• NM_000520.6:c.1073+1G>TMANE SELECT
• NM_001318825.2:c.1106+1G>T
• NC_000015.9:g.72640388C>A
• NM_000520.4:c.1073+1G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs76173977

NCBI 1000 Genomes Browser:

rs76173977

Molecular consequence:

• NM_000520.6:c.1073+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001318825.2:c.1106+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]