ClinVar

NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132902724 (on Assembly GRCh38)
• Chr9: 135778111 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys)

HGVS:

• NC_000009.12:g.132902724G>T
• NG_012386.1:g.46910C>A
• NM_000368.5:c.2272C>AMANE SELECT
• NM_001162426.2:c.2269C>A
• NM_001162427.2:c.2119C>A
• NM_001362177.2:c.1909C>A
• NP_000359.1:p.Gln758Lys
• NP_001155898.1:p.Gln757Lys
• NP_001155899.1:p.Gln707Lys
• NP_001349106.1:p.Gln637Lys
• LRG_486t1:c.2272C>A
• LRG_486:g.46910C>A
• NC_000009.11:g.135778111G>T
• NM_000368.4:c.2272C>A

This HGVS expression did not pass validation

Protein change:

Q637K

Links:

dbSNP: rs397514783

NCBI 1000 Genomes Browser:

rs397514783

Molecular consequence:

• NM_000368.5:c.2272C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.2269C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.2119C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.1909C>A - missense variant - [Sequence Ontology: SO:0001583]