ClinVar

NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)

Gene:

TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132912311 (on Assembly GRCh38)
• Chr9: 135787698 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)

HGVS:

• NC_000009.12:g.132912311C>G
• NG_012386.1:g.37323G>C
• NM_000368.5:c.884G>CMANE SELECT
• NM_001162426.2:c.884G>C
• NM_001162427.2:c.731G>C
• NM_001362177.2:c.521G>C
• NP_000359.1:p.Ser295Thr
• NP_000359.1:p.Ser295Thr
• NP_001155898.1:p.Ser295Thr
• NP_001155899.1:p.Ser244Thr
• NP_001349106.1:p.Ser174Thr
• LRG_486t1:c.884G>C
• LRG_486:g.37323G>C
• LRG_486p1:p.Ser295Thr
• NC_000009.11:g.135787698C>G
• NM_000368.4:c.884G>C

This HGVS expression did not pass validation

Protein change:

S174T

Links:

dbSNP: rs1415705359

NCBI 1000 Genomes Browser:

rs1415705359

Molecular consequence:

• NM_000368.5:c.884G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.884G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.731G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.521G>C - missense variant - [Sequence Ontology: SO:0001583]