ClinVar

NM_014363.6(SACS):c.7210T>G (p.Leu2404Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

• Chr13: 23336666 (on Assembly GRCh38)
• Chr13: 23910805 (on Assembly GRCh37)

Preferred name:

NM_014363.6(SACS):c.7210T>G (p.Leu2404Val)

HGVS:

• NC_000013.11:g.23336666A>C
• NG_012342.1:g.102037T>G
• NM_001278055.2:c.6769T>G
• NM_014363.6:c.7210T>GMANE SELECT
• NP_001264984.1:p.Leu2257Val
• NP_055178.3:p.Leu2404Val
• NC_000013.10:g.23910805A>C
• NM_014363.4:c.7210T>G

This HGVS expression did not pass validation

Protein change:

L2257V

Links:

dbSNP: rs1593127760

NCBI 1000 Genomes Browser:

rs1593127760

Molecular consequence:

• NM_001278055.2:c.6769T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014363.6:c.7210T>G - missense variant - [Sequence Ontology: SO:0001583]