ClinVar

NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197356839 (on Assembly GRCh38)
• Chr1: 197325969 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)

HGVS:

• NC_000001.11:g.197356839G>C
• NG_008483.2:g.160378G>C
• NM_001193640.2:c.661G>C
• NM_001257965.2:c.790G>C
• NM_001257966.2:c.997G>C
• NM_201253.3:c.997G>CMANE SELECT
• NP_001180569.1:p.Gly221Arg
• NP_001244894.1:p.Gly264Arg
• NP_001244895.1:p.Gly333Arg
• NP_957705.1:p.Gly333Arg
• NC_000001.10:g.197325969G>C
• NM_201253.2:c.997G>C
• NR_047563.2:n.1158G>C
• NR_047564.2:n.1158G>C

This HGVS expression did not pass validation

Protein change:

G221R

Links:

dbSNP: rs778232235

NCBI 1000 Genomes Browser:

rs778232235

Molecular consequence:

• NM_001193640.2:c.661G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.790G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.997G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.997G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.1158G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.1158G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]