ClinVar

NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

• Chr13: 23337868 (on Assembly GRCh38)
• Chr13: 23912007 (on Assembly GRCh37)

Preferred name:

NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)

HGVS:

• NC_000013.11:g.23337868T>A
• NG_012342.1:g.100835A>T
• NM_001278055.2:c.5567A>T
• NM_014363.6:c.6008A>TMANE SELECT
• NP_001264984.1:p.Asp1856Val
• NP_055178.3:p.Asp2003Val
• NC_000013.10:g.23912007T>A
• NM_014363.5:c.6008A>T

This HGVS expression did not pass validation

Protein change:

D1856V

Links:

dbSNP: rs537408260

NCBI 1000 Genomes Browser:

rs537408260

Molecular consequence:

• NM_001278055.2:c.5567A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014363.6:c.6008A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1