ClinVar

NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132904413 (on Assembly GRCh38)
• Chr9: 135779800 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)

HGVS:

• NC_000009.12:g.132904413C>T
• NG_012386.1:g.45221G>A
• NM_000368.5:c.2039G>AMANE SELECT
• NM_001162426.2:c.2036G>A
• NM_001162427.2:c.1886G>A
• NM_001362177.2:c.1676G>A
• NP_000359.1:p.Gly680Glu
• NP_000359.1:p.Gly680Glu
• NP_001155898.1:p.Gly679Glu
• NP_001155899.1:p.Gly629Glu
• NP_001349106.1:p.Gly559Glu
• LRG_486t1:c.2039G>A
• LRG_486:g.45221G>A
• LRG_486p1:p.Gly680Glu
• NC_000009.11:g.135779800C>T
• NM_000368.3:c.2039G>A
• NM_000368.4:c.2039G>A
• p.(Gly680Glu)

This HGVS expression did not pass validation

Protein change:

G559E

Links:

Tuberous sclerosis database (TSC1): TSC1_00128; dbSNP: rs118203623

NCBI 1000 Genomes Browser:

rs118203623

Molecular consequence:

• NM_000368.5:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.2036G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.1886G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.1676G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1