ClinVar

NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

• Chr13: 23337493 (on Assembly GRCh38)
• Chr13: 23911632 (on Assembly GRCh37)

Preferred name:

NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)

HGVS:

• NC_000013.11:g.23337493T>C
• NG_012342.1:g.101210A>G
• NM_001278055.2:c.5942A>G
• NM_014363.4:c.6383A>G
• NM_014363.6:c.6383A>GMANE SELECT
• NP_001264984.1:p.Asp1981Gly
• NP_055178.3:p.Asp2128Gly
• NC_000013.10:g.23911632T>C
• NM_014363.5:c.6383A>G

This HGVS expression did not pass validation

Protein change:

D1981G

Links:

dbSNP: rs762352013

NCBI 1000 Genomes Browser:

rs762352013

Molecular consequence:

• NM_001278055.2:c.5942A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014363.6:c.6383A>G - missense variant - [Sequence Ontology: SO:0001583]