ClinVar

NC_000005.10:g.74721765G>A

Genes:

HEXB:hexosaminidase subunit beta [Gene - OMIM - HGNC]
GFM2:GTP dependent ribosome recycling factor mitochondrial 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.3

Genomic location:

• Chr5: 74721765 (on Assembly GRCh38)
• Chr5: 74017590 (on Assembly GRCh37)

Preferred name:

NC_000005.10:g.74721765G>A

HGVS:

• NC_000005.10:g.74721765G>A
• NG_009770.2:g.86743G>A
• NG_011531.1:g.50453C>T
• NM_001281302.2:c.2326C>T
• NM_032380.5:c.2230C>TMANE SELECT
• NM_170691.3:c.2089C>T
• NP_001268231.1:p.Arg776Ter
• NP_115756.2:p.Arg744Ter
• NP_733792.1:p.Arg697Ter
• NC_000005.9:g.74017590G>A
• NR_104006.2:n.2295C>T

This HGVS expression did not pass validation

Protein change:

R697*

Links:

Counsyl: 1811099; dbSNP: rs35080306

NCBI 1000 Genomes Browser:

rs35080306

Molecular consequence:

• NR_104006.2:n.2295C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001281302.2:c.2326C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_032380.5:c.2230C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_170691.3:c.2089C>T - nonsense - [Sequence Ontology: SO:0001587]