ClinVar

NM_001904.4(CTNNB1):c.118A>C (p.Thr40Pro)

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: 41224630 (on Assembly GRCh38)
• Chr3: 41266121 (on Assembly GRCh37)

Preferred name:

NM_001904.4(CTNNB1):c.118A>C (p.Thr40Pro)

HGVS:

• NC_000003.12:g.41224630A>C
• NG_013302.2:g.30180A>C
• NM_001098209.2:c.118A>C
• NM_001098210.2:c.118A>C
• NM_001330729.2:c.97A>C
• NM_001904.4:c.118A>CMANE SELECT
• NP_001091679.1:p.Thr40Pro
• NP_001091680.1:p.Thr40Pro
• NP_001317658.1:p.Thr33Pro
• NP_001895.1:p.Thr40Pro
• LRG_1108t1:c.118A>C
• LRG_1108:g.30180A>C
• LRG_1108p1:p.Thr40Pro
• NC_000003.11:g.41266121A>C

This HGVS expression did not pass validation

Protein change:

T33P

Links:

dbSNP: rs1057519836

NCBI 1000 Genomes Browser:

rs1057519836

Molecular consequence:

• NM_001098209.2:c.118A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001098210.2:c.118A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330729.2:c.97A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001904.4:c.118A>C - missense variant - [Sequence Ontology: SO:0001583]