ClinVar

NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197427813 (on Assembly GRCh38)
• Chr1: 197396943 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)

HGVS:

• NC_000001.11:g.197427813A>T
• NG_008483.2:g.231352A>T
• NM_001193640.2:c.2152A>T
• NM_001257965.2:c.2281A>T
• NM_001257966.2:c.2128+5857A>T
• NM_201253.3:c.2488A>TMANE SELECT
• NP_001180569.1:p.Ile718Phe
• NP_001244894.1:p.Ile761Phe
• NP_957705.1:p.Ile830Phe
• NC_000001.10:g.197396943A>T
• NC_000001.10:g.197396943A>T
• NM_201253.2:c.2488A>T
• NR_047563.2:n.2441A>T
• NR_047564.2:n.2649A>T

This HGVS expression did not pass validation

Protein change:

I718F

Links:

dbSNP: rs779451259

NCBI 1000 Genomes Browser:

rs779451259

Molecular consequence:

• NM_001257966.2:c.2128+5857A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193640.2:c.2152A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.2281A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.2488A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.2441A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2649A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]