ClinVar

NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)

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: 41224606 (on Assembly GRCh38)
• Chr3: 41266097 (on Assembly GRCh37)

Preferred name:

NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)

HGVS:

• NC_000003.12:g.41224606G>T
• NG_013302.2:g.30156G>T
• NM_001098209.2:c.94G>T
• NM_001098210.2:c.94G>T
• NM_001330729.2:c.73G>T
• NM_001904.4:c.94G>TMANE SELECT
• NP_001091679.1:p.Asp32Tyr
• NP_001091680.1:p.Asp32Tyr
• NP_001317658.1:p.Asp25Tyr
• NP_001895.1:p.Asp32Tyr
• LRG_1108t1:c.94G>T
• LRG_1108:g.30156G>T
• LRG_1108p1:p.Asp32Tyr
• NC_000003.11:g.41266097G>T
• P35222:p.Asp32Tyr
• p.D32Y

This HGVS expression did not pass validation

Protein change:

D25Y; ASP32TYR

Links:

UniProtKB: P35222#VAR_017616; OMIM: 116806.0004; OMIM: 116806.0016; dbSNP: rs28931588

NCBI 1000 Genomes Browser:

rs28931588

Molecular consequence:

• NM_001098209.2:c.94G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001098210.2:c.94G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330729.2:c.73G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001904.4:c.94G>T - missense variant - [Sequence Ontology: SO:0001583]