ClinVar

NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2088569 (on Assembly GRCh38)
• Chr16: 2138570 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)

Other names:

p.R1795C:CGC>TGC

HGVS:

• NC_000016.10:g.2088569C>T
• NG_005895.1:g.44264C>T
• NG_008617.1:g.54652G>A
• NM_000548.5:c.5383C>TMANE SELECT
• NM_001077183.3:c.5182C>T
• NM_001114382.3:c.5314C>T
• NM_001318827.2:c.5074C>T
• NM_001318829.2:c.5038C>T
• NM_001318831.2:c.4651C>T
• NM_001318832.2:c.5215C>T
• NM_001363528.2:c.5185C>T
• NM_001370404.1:c.5251C>T
• NM_001370405.1:c.5242C>T
• NM_021055.3:c.5254C>T
• NP_000539.2:p.Arg1795Cys
• NP_001070651.1:p.Arg1728Cys
• NP_001107854.1:p.Arg1772Cys
• NP_001305756.1:p.Arg1692Cys
• NP_001305758.1:p.Arg1680Cys
• NP_001305760.1:p.Arg1551Cys
• NP_001305761.1:p.Arg1739Cys
• NP_001350457.1:p.Arg1729Cys
• NP_001357333.1:p.Arg1751Cys
• NP_001357334.1:p.Arg1748Cys
• NP_066399.2:p.Arg1752Cys
• LRG_487t1:c.5383C>T
• LRG_487:g.44264C>T
• NC_000016.9:g.2138570C>T
• NM_000548.3:c.5383C>T
• p.R1795C
• p.(Arg1795Cys)

This HGVS expression did not pass validation

Protein change:

R1551C

Links:

Tuberous sclerosis database (TSC2): TSC2_00666; dbSNP: rs45517423

NCBI 1000 Genomes Browser:

rs45517423

Molecular consequence:

• NM_000548.5:c.5383C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077183.3:c.5182C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114382.3:c.5314C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318827.2:c.5074C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318829.2:c.5038C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318831.2:c.4651C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318832.2:c.5215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363528.2:c.5185C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370404.1:c.5251C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370405.1:c.5242C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021055.3:c.5254C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

24