ClinVar

NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)

Gene:

TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.33

Genomic location:

• Chr9: 99138006 (on Assembly GRCh38)
• Chr9: 101900288 (on Assembly GRCh37)

Preferred name:

NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)

HGVS:

• NC_000009.12:g.99138006C>T
• NG_007461.1:g.37877C>T
• NM_001130916.3:c.491C>T
• NM_001306210.2:c.734C>T
• NM_004612.4:c.722C>TMANE SELECT
• NP_001124388.1:p.Ser164Leu
• NP_001293139.1:p.Ser245Leu
• NP_004603.1:p.Ser241Leu
• NC_000009.11:g.101900288C>T
• NM_004612.2:c.722C>T
• P36897:p.Ser241Leu

This HGVS expression did not pass validation

Protein change:

S164L; SER241LEU

Links:

UniProtKB: P36897#VAR_029482; OMIM: 190181.0005; dbSNP: rs111854391

NCBI 1000 Genomes Browser:

rs111854391

Molecular consequence:

• NM_001130916.3:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001306210.2:c.734C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004612.4:c.722C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein function [Variation Ontology: 0003]