ClinVar

NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)

Gene:

TGFBR2:transforming growth factor beta receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30671647 (on Assembly GRCh38)
• Chr3: 30713139 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)

HGVS:

• NC_000003.12:g.30671647C>T
• NG_007490.1:g.70146C>T
• NM_001024847.3:c.539C>T
• NM_001407126.1:c.647C>T
• NM_001407127.1:c.572C>T
• NM_001407128.1:c.491C>T
• NM_001407129.1:c.467C>T
• NM_001407130.1:c.464C>T
• NM_001407132.1:c.359C>T
• NM_001407133.1:c.359C>T
• NM_001407134.1:c.359C>T
• NM_001407135.1:c.359C>T
• NM_001407136.1:c.359C>T
• NM_001407137.1:c.179C>T
• NM_001407138.1:c.104C>T
• NM_003242.6:c.464C>TMANE SELECT
• NP_001020018.1:p.Thr180Ile
• NP_001020018.1:p.Thr180Ile
• NP_001394055.1:p.Thr216Ile
• NP_001394056.1:p.Thr191Ile
• NP_001394057.1:p.Thr164Ile
• NP_001394058.1:p.Thr156Ile
• NP_001394059.1:p.Thr155Ile
• NP_001394061.1:p.Thr120Ile
• NP_001394062.1:p.Thr120Ile
• NP_001394063.1:p.Thr120Ile
• NP_001394064.1:p.Thr120Ile
• NP_001394065.1:p.Thr120Ile
• NP_001394066.1:p.Thr60Ile
• NP_001394067.1:p.Thr35Ile
• NP_003233.4:p.Thr155Ile
• LRG_779t1:c.539C>T
• LRG_779t2:c.464C>T
• LRG_779:g.70146C>T
• LRG_779p1:p.Thr180Ile
• LRG_779p2:p.Thr155Ile
• NC_000003.11:g.30713139C>T
• NM_001024847.2:c.539C>T
• NM_003242.5:c.464C>T

This HGVS expression did not pass validation

Protein change:

T120I

Links:

dbSNP: rs727504406

NCBI 1000 Genomes Browser:

rs727504406

Molecular consequence:

• NM_001024847.3:c.539C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407126.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407127.1:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407128.1:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407129.1:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407130.1:c.464C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407132.1:c.359C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407133.1:c.359C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407134.1:c.359C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407135.1:c.359C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407136.1:c.359C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407137.1:c.179C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407138.1:c.104C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003242.6:c.464C>T - missense variant - [Sequence Ontology: SO:0001583]