ClinVar

NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter)

Gene:

CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197434964 (on Assembly GRCh38)
• Chr1: 197404094 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter)

HGVS:

• NC_000001.11:g.197434964G>A
• NG_008483.2:g.238503G>A
• NM_001193640.2:c.2765G>A
• NM_001257965.2:c.3029G>A
• NM_001257966.2:c.2129-636G>A
• NM_201253.3:c.3101G>AMANE SELECT
• NP_001180569.1:p.Trp922Ter
• NP_001244894.1:p.Trp1010Ter
• NP_957705.1:p.Trp1034Ter
• NC_000001.10:g.197404094G>A
• NM_201253.2:c.3101G>A
• NR_047563.2:n.3054G>A
• NR_047564.2:n.3262G>A

This HGVS expression did not pass validation

Protein change:

W1010*

Links:

dbSNP: rs1426006136

NCBI 1000 Genomes Browser:

rs1426006136

Molecular consequence:

• NM_001257966.2:c.2129-636G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_047563.2:n.3054G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.3262G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.2765G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001257965.2:c.3029G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_201253.3:c.3101G>A - nonsense - [Sequence Ontology: SO:0001587]