ClinVar

NM_201253.3(CRB1):c.1636A>G (p.Ile546Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421464 (on Assembly GRCh38)
• Chr1: 197390594 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1636A>G (p.Ile546Val)

HGVS:

• NC_000001.11:g.197421464A>G
• NG_008483.2:g.225003A>G
• NM_001193640.2:c.1300A>G
• NM_001257965.2:c.1429A>G
• NM_001257966.2:c.1636A>G
• NM_201253.3:c.1636A>GMANE SELECT
• NP_001180569.1:p.Ile434Val
• NP_001244894.1:p.Ile477Val
• NP_001244895.1:p.Ile546Val
• NP_957705.1:p.Ile546Val
• NC_000001.10:g.197390594A>G
• NR_047563.2:n.1797A>G
• NR_047564.2:n.1797A>G

This HGVS expression did not pass validation

Protein change:

I434V

Links:

dbSNP: rs745464770

NCBI 1000 Genomes Browser:

rs745464770

Molecular consequence:

• NM_001193640.2:c.1300A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.1797A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.1797A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]