ClinVar

NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

• Chr13: 23338891 (on Assembly GRCh38)
• Chr13: 23913030 (on Assembly GRCh37)

Preferred name:

NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)

HGVS:

• NC_000013.11:g.23338891G>A
• NG_012342.1:g.99812C>T
• NM_001278055.2:c.4544C>T
• NM_014363.6:c.4985C>TMANE SELECT
• NP_001264984.1:p.Thr1515Met
• NP_055178.3:p.Thr1662Met
• NC_000013.10:g.23913030G>A
• NM_014363.4:c.4985C>T
• NM_014363.5:c.4985C>T

This HGVS expression did not pass validation

Protein change:

T1515M

Links:

dbSNP: rs139387396

NCBI 1000 Genomes Browser:

rs139387396

Molecular consequence:

• NM_001278055.2:c.4544C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014363.6:c.4985C>T - missense variant - [Sequence Ontology: SO:0001583]