ClinVar

NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2088498 (on Assembly GRCh38)
• Chr16: 2138499 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)

HGVS:

• NC_000016.10:g.2088498C>T
• NG_005895.1:g.44193C>T
• NG_008617.1:g.54723G>A
• NM_000548.5:c.5312C>TMANE SELECT
• NM_001077183.3:c.5111C>T
• NM_001114382.3:c.5243C>T
• NM_001318827.2:c.5003C>T
• NM_001318829.2:c.4967C>T
• NM_001318831.2:c.4580C>T
• NM_001318832.2:c.5144C>T
• NM_001363528.2:c.5114C>T
• NM_001370404.1:c.5180C>T
• NM_001370405.1:c.5171C>T
• NM_021055.3:c.5183C>T
• NP_000539.2:p.Pro1771Leu
• NP_001070651.1:p.Pro1704Leu
• NP_001107854.1:p.Pro1748Leu
• NP_001305756.1:p.Pro1668Leu
• NP_001305758.1:p.Pro1656Leu
• NP_001305760.1:p.Pro1527Leu
• NP_001305761.1:p.Pro1715Leu
• NP_001350457.1:p.Pro1705Leu
• NP_001357333.1:p.Pro1727Leu
• NP_001357334.1:p.Pro1724Leu
• NP_066399.2:p.Pro1728Leu
• LRG_487t1:c.5312C>T
• LRG_487:g.44193C>T
• NC_000016.9:g.2138499C>T
• NM_000548.3:c.5312C>T
• NM_000548.4:c.5312C>T
• p.(Pro1771Leu)

This HGVS expression did not pass validation

Protein change:

P1527L

Links:

Tuberous sclerosis database (TSC2): TSC2_01136; dbSNP: rs137854214

NCBI 1000 Genomes Browser:

rs137854214

Molecular consequence:

• NM_000548.5:c.5312C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077183.3:c.5111C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114382.3:c.5243C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318827.2:c.5003C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318829.2:c.4967C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318831.2:c.4580C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318832.2:c.5144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363528.2:c.5114C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370404.1:c.5180C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370405.1:c.5171C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021055.3:c.5183C>T - missense variant - [Sequence Ontology: SO:0001583]