ClinVar

NM_000548.5(TSC2):c.4645T>A (p.Tyr1549Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2085305 (on Assembly GRCh38)
• Chr16: 2135306 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.4645T>A (p.Tyr1549Asn)

HGVS:

• NC_000016.10:g.2085305T>A
• NG_005895.1:g.41000T>A
• NM_000548.5:c.4645T>AMANE SELECT
• NM_001077183.3:c.4444T>A
• NM_001114382.3:c.4576T>A
• NM_001318827.2:c.4336T>A
• NM_001318829.2:c.4300T>A
• NM_001318831.2:c.3913T>A
• NM_001318832.2:c.4477T>A
• NM_001363528.2:c.4447T>A
• NM_001370404.1:c.4513T>A
• NM_001370405.1:c.4516T>A
• NM_021055.3:c.4516T>A
• NP_000539.2:p.Tyr1549Asn
• NP_001070651.1:p.Tyr1482Asn
• NP_001107854.1:p.Tyr1526Asn
• NP_001305756.1:p.Tyr1446Asn
• NP_001305758.1:p.Tyr1434Asn
• NP_001305760.1:p.Tyr1305Asn
• NP_001305761.1:p.Tyr1493Asn
• NP_001350457.1:p.Tyr1483Asn
• NP_001357333.1:p.Tyr1505Asn
• NP_001357334.1:p.Tyr1506Asn
• NP_066399.2:p.Tyr1506Asn
• LRG_487t1:c.4645T>A
• LRG_487:g.41000T>A
• NC_000016.9:g.2135306T>A
• NM_000548.3:c.4645T>A
• p.(Tyr1549Asn)

This HGVS expression did not pass validation

Protein change:

Y1305N

Links:

Tuberous sclerosis database (TSC2): TSC2_00597; dbSNP: rs45488595

NCBI 1000 Genomes Browser:

rs45488595

Molecular consequence:

• NM_000548.5:c.4645T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077183.3:c.4444T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114382.3:c.4576T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318827.2:c.4336T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318829.2:c.4300T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318831.2:c.3913T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318832.2:c.4477T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363528.2:c.4447T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370404.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370405.1:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021055.3:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]