ClinVar

NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

• Chr13: 23337944 (on Assembly GRCh38)
• Chr13: 23912083 (on Assembly GRCh37)

Preferred name:

NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)

HGVS:

• NC_000013.11:g.23337944C>T
• NG_012342.1:g.100759G>A
• NM_001278055.2:c.5491G>A
• NM_014363.6:c.5932G>AMANE SELECT
• NP_001264984.1:p.Val1831Ile
• NP_055178.3:p.Val1978Ile
• NC_000013.10:g.23912083C>T
• NM_014363.5:c.5932G>A

This HGVS expression did not pass validation

Protein change:

V1831I

Links:

dbSNP: rs373812430

NCBI 1000 Genomes Browser:

rs373812430

Molecular consequence:

• NM_001278055.2:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014363.6:c.5932G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1