ClinVar

NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197427556 (on Assembly GRCh38)
• Chr1: 197396686 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)

HGVS:

• NC_000001.11:g.197427556G>A
• NG_008483.2:g.231095G>A
• NM_001193640.2:c.1895G>A
• NM_001257965.2:c.2024G>A
• NM_001257966.2:c.2128+5600G>A
• NM_201253.3:c.2231G>AMANE SELECT
• NP_001180569.1:p.Arg632Gln
• NP_001244894.1:p.Arg675Gln
• NP_957705.1:p.Arg744Gln
• NC_000001.10:g.197396686G>A
• NC_000001.10:g.197396686G>A
• NM_201253.2:c.2231G>A
• NR_047563.2:n.2184G>A
• NR_047564.2:n.2392G>A

This HGVS expression did not pass validation

Protein change:

R632Q

Links:

dbSNP: rs530046423

NCBI 1000 Genomes Browser:

rs530046423

Molecular consequence:

• NM_001257966.2:c.2128+5600G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193640.2:c.1895G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.2024G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.2231G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.2184G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2392G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]