ClinVar

NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)

Genes:

LOC126806658:BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 [Gene]
CTNNB1:catenin beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.1

Genomic location:

• Chr3: 41224634 (on Assembly GRCh38)
• Chr3: 41266125 (on Assembly GRCh37)

Preferred name:

NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)

HGVS:

• NC_000003.12:g.41224634C>T
• NG_013302.2:g.30184C>T
• NM_001098209.2:c.122C>T
• NM_001098210.2:c.122C>T
• NM_001330729.2:c.101C>T
• NM_001904.4:c.122C>TMANE SELECT
• NP_001091679.1:p.Thr41Ile
• NP_001091680.1:p.Thr41Ile
• NP_001317658.1:p.Thr34Ile
• NP_001895.1:p.Thr41Ile
• LRG_1108t1:c.122C>T
• LRG_1108:g.30184C>T
• LRG_1108p1:p.Thr41Ile
• NC_000003.11:g.41266125C>T
• P35222:p.Thr41Ile

This HGVS expression did not pass validation

Protein change:

T34I; THR41ILE

Links:

UniProtKB: P35222#VAR_017630; OMIM: 116806.0011; dbSNP: rs121913413

NCBI 1000 Genomes Browser:

rs121913413

Molecular consequence:

• NM_001098209.2:c.122C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001098210.2:c.122C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330729.2:c.101C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001904.4:c.122C>T - missense variant - [Sequence Ontology: SO:0001583]