ClinVar

NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)

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: 41224612 (on Assembly GRCh38)
• Chr3: 41266103 (on Assembly GRCh37)

Preferred name:

NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)

HGVS:

• NC_000003.12:g.41224612G>C
• NG_013302.2:g.30162G>C
• NM_001098209.2:c.100G>C
• NM_001098210.2:c.100G>C
• NM_001330729.2:c.79G>C
• NM_001904.4:c.100G>CMANE SELECT
• NP_001091679.1:p.Gly34Arg
• NP_001091680.1:p.Gly34Arg
• NP_001317658.1:p.Gly27Arg
• NP_001895.1:p.Gly34Arg
• LRG_1108t1:c.100G>C
• LRG_1108:g.30162G>C
• LRG_1108p1:p.Gly34Arg
• NC_000003.11:g.41266103G>C

This HGVS expression did not pass validation

Protein change:

G27R

Links:

dbSNP: rs121913399

NCBI 1000 Genomes Browser:

rs121913399

Molecular consequence:

• NM_001098209.2:c.100G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001098210.2:c.100G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330729.2:c.79G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001904.4:c.100G>C - missense variant - [Sequence Ontology: SO:0001583]