ClinVar

NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2088294 (on Assembly GRCh38)
• Chr16: 2138295 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu)

HGVS:

• NC_000016.10:g.2088294G>T
• NG_005895.1:g.43989G>T
• NG_008617.1:g.54927C>A
• NM_000548.5:c.5228G>TMANE SELECT
• NM_001077183.3:c.5027G>T
• NM_001114382.3:c.5159G>T
• NM_001318827.2:c.4919G>T
• NM_001318829.2:c.4883G>T
• NM_001318831.2:c.4496G>T
• NM_001318832.2:c.5060G>T
• NM_001363528.2:c.5030G>T
• NM_001370404.1:c.5096G>T
• NM_001370405.1:c.5087G>T
• NM_021055.3:c.5099G>T
• NP_000539.2:p.Arg1743Leu
• NP_001070651.1:p.Arg1676Leu
• NP_001107854.1:p.Arg1720Leu
• NP_001305756.1:p.Arg1640Leu
• NP_001305758.1:p.Arg1628Leu
• NP_001305760.1:p.Arg1499Leu
• NP_001305761.1:p.Arg1687Leu
• NP_001350457.1:p.Arg1677Leu
• NP_001357333.1:p.Arg1699Leu
• NP_001357334.1:p.Arg1696Leu
• NP_066399.2:p.Arg1700Leu
• LRG_487t1:c.5228G>T
• LRG_487:g.43989G>T
• NC_000016.9:g.2138295G>T
• NM_000548.3:c.5228G>T
• p.(Arg1743Leu)

This HGVS expression did not pass validation

Protein change:

R1499L

Links:

Tuberous sclerosis database (TSC2): TSC2_01180; dbSNP: rs45507199

NCBI 1000 Genomes Browser:

rs45507199

Molecular consequence:

• NM_000548.5:c.5228G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077183.3:c.5027G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114382.3:c.5159G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318827.2:c.4919G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318829.2:c.4883G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318831.2:c.4496G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318832.2:c.5060G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363528.2:c.5030G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370404.1:c.5096G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370405.1:c.5087G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021055.3:c.5099G>T - missense variant - [Sequence Ontology: SO:0001583]