ClinVar

NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132903784 (on Assembly GRCh38)
• Chr9: 135779171 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)

Other names:

p.R692Q:CGA>CAA

HGVS:

• NC_000009.12:g.132903784C>T
• NG_012386.1:g.45850G>A
• NM_000368.5:c.2075G>AMANE SELECT
• NM_001162426.2:c.2072G>A
• NM_001162427.2:c.1922G>A
• NM_001362177.2:c.1712G>A
• NP_000359.1:p.Arg692Gln
• NP_000359.1:p.Arg692Gln
• NP_001155898.1:p.Arg691Gln
• NP_001155899.1:p.Arg641Gln
• NP_001349106.1:p.Arg571Gln
• LRG_486t1:c.2075G>A
• LRG_486:g.45850G>A
• LRG_486p1:p.Arg692Gln
• NC_000009.11:g.135779171C>T
• NM_000368.4:c.2075G>A
• p.R692Q

This HGVS expression did not pass validation

Protein change:

R571Q

Links:

dbSNP: rs199755731

NCBI 1000 Genomes Browser:

rs199755731

Molecular consequence:

• NM_000368.5:c.2075G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.2072G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.1922G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]