ClinVar

NM_014363.6(SACS):c.*821A>G

Gene:

SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

• Chr13: 23329315 (on Assembly GRCh38)
• Chr13: 23903454 (on Assembly GRCh37)

Preferred name:

NM_014363.6(SACS):c.*821A>G

HGVS:

• NC_000013.11:g.23329315T>C
• NG_012342.1:g.109388A>G
• NM_001278055.2:c.*821A>G
• NM_014363.6:c.*821A>GMANE SELECT
• NC_000013.10:g.23903454T>C
• NM_014363.5:c.*821A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs145184122

NCBI 1000 Genomes Browser:

rs145184122

Molecular consequence:

• NM_001278055.2:c.*821A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_014363.6:c.*821A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

2