ClinVar

NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30672245 (on Assembly GRCh38)
• Chr3: 30713737 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)

Other names:

p.L354L:CTC>CTT

HGVS:

• NC_000003.12:g.30672245C>T
• NG_007490.1:g.70744C>T
• NM_001024847.3:c.1137C>T
• NM_001407126.1:c.1245C>T
• NM_001407127.1:c.1170C>T
• NM_001407128.1:c.1089C>T
• NM_001407129.1:c.1065C>T
• NM_001407130.1:c.1062C>T
• NM_001407132.1:c.957C>T
• NM_001407133.1:c.957C>T
• NM_001407134.1:c.957C>T
• NM_001407135.1:c.957C>T
• NM_001407136.1:c.957C>T
• NM_001407137.1:c.777C>T
• NM_001407138.1:c.702C>T
• NM_001407139.1:c.530-16142C>T
• NM_003242.6:c.1062C>TMANE SELECT
• NP_001020018.1:p.Leu379=
• NP_001020018.1:p.Leu379=
• NP_001394055.1:p.Leu415=
• NP_001394056.1:p.Leu390=
• NP_001394057.1:p.Leu363=
• NP_001394058.1:p.Leu355=
• NP_001394059.1:p.Leu354=
• NP_001394061.1:p.Leu319=
• NP_001394062.1:p.Leu319=
• NP_001394063.1:p.Leu319=
• NP_001394064.1:p.Leu319=
• NP_001394065.1:p.Leu319=
• NP_001394066.1:p.Leu259=
• NP_001394067.1:p.Leu234=
• NP_003233.4:p.Leu354=
• LRG_779t1:c.1137C>T
• LRG_779t2:c.1062C>T
• LRG_779:g.70744C>T
• LRG_779p1:p.Leu379=
• LRG_779p2:p.Leu354=
• NC_000003.11:g.30713737C>T
• NM_001024847.2:c.1137C>T
• NM_003242.5:c.1062C>T
• p.Leu354Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs113194608

NCBI 1000 Genomes Browser:

rs113194608

Molecular consequence:

• NM_001407139.1:c.530-16142C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024847.3:c.1137C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407126.1:c.1245C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407127.1:c.1170C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407128.1:c.1089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407129.1:c.1065C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407130.1:c.1062C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407132.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407133.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407134.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407135.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407136.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407137.1:c.777C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407138.1:c.702C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003242.6:c.1062C>T - synonymous variant - [Sequence Ontology: SO:0001819]