ClinVar

NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30672342 (on Assembly GRCh38)
• Chr3: 30713834 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)

Other names:

p.V387L:GTG>TTG

HGVS:

• NC_000003.12:g.30672342G>T
• NG_007490.1:g.70841G>T
• NM_001024847.3:c.1234G>T
• NM_001407126.1:c.1342G>T
• NM_001407127.1:c.1267G>T
• NM_001407128.1:c.1186G>T
• NM_001407129.1:c.1162G>T
• NM_001407130.1:c.1159G>T
• NM_001407132.1:c.1054G>T
• NM_001407133.1:c.1054G>T
• NM_001407134.1:c.1054G>T
• NM_001407135.1:c.1054G>T
• NM_001407136.1:c.1054G>T
• NM_001407137.1:c.874G>T
• NM_001407138.1:c.799G>T
• NM_003242.6:c.1159G>TMANE SELECT
• NP_001020018.1:p.Val412Leu
• NP_001020018.1:p.Val412Leu
• NP_001394055.1:p.Val448Leu
• NP_001394056.1:p.Val423Leu
• NP_001394057.1:p.Val396Leu
• NP_001394058.1:p.Val388Leu
• NP_001394059.1:p.Val387Leu
• NP_001394061.1:p.Val352Leu
• NP_001394062.1:p.Val352Leu
• NP_001394063.1:p.Val352Leu
• NP_001394064.1:p.Val352Leu
• NP_001394065.1:p.Val352Leu
• NP_001394066.1:p.Val292Leu
• NP_001394067.1:p.Val267Leu
• NP_003233.4:p.Val387Leu
• LRG_779t1:c.1234G>T
• LRG_779t2:c.1159G>T
• LRG_779:g.70841G>T
• LRG_779p1:p.Val412Leu
• LRG_779p2:p.Val387Leu
• NC_000003.11:g.30713834G>T
• NM_001024847.2:c.1234G>T
• NM_003242.5:c.1159G>T

This HGVS expression did not pass validation

Protein change:

V267L

Links:

dbSNP: rs35766612

NCBI 1000 Genomes Browser:

rs35766612

Molecular consequence:

• NM_001024847.3:c.1234G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407126.1:c.1342G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407127.1:c.1267G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407128.1:c.1186G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407129.1:c.1162G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407130.1:c.1159G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407132.1:c.1054G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407133.1:c.1054G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407134.1:c.1054G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407135.1:c.1054G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407136.1:c.1054G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407137.1:c.874G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407138.1:c.799G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003242.6:c.1159G>T - missense variant - [Sequence Ontology: SO:0001583]