ClinVar

NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

• Chr13: 23334326 (on Assembly GRCh38)
• Chr13: 23908465 (on Assembly GRCh37)

Preferred name:

NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)

HGVS:

• NC_000013.11:g.23334326G>A
• NG_012342.1:g.104377C>T
• NM_001278055.2:c.9109C>T
• NM_014363.6:c.9550C>TMANE SELECT
• NP_001264984.1:p.Arg3037Cys
• NP_055178.3:p.Arg3184Cys
• NC_000013.10:g.23908465G>A
• NM_014363.4:c.9550C>T
• NM_014363.5:c.9550C>T

This HGVS expression did not pass validation

Protein change:

R3037C

Links:

dbSNP: rs143557803

NCBI 1000 Genomes Browser:

rs143557803

Molecular consequence:

• NM_001278055.2:c.9109C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014363.6:c.9550C>T - missense variant - [Sequence Ontology: SO:0001583]