ClinVar

NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197435206 (on Assembly GRCh38)
• Chr1: 197404336 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg)

HGVS:

• NC_000001.11:g.197435206G>C
• NG_008483.2:g.238745G>C
• NM_001193640.2:c.3007G>C
• NM_001257965.2:c.3271G>C
• NM_001257966.2:c.2129-394G>C
• NM_201253.3:c.3343G>CMANE SELECT
• NP_001180569.1:p.Gly1003Arg
• NP_001244894.1:p.Gly1091Arg
• NP_957705.1:p.Gly1115Arg
• NC_000001.10:g.197404336G>C
• NR_047563.2:n.3296G>C
• NR_047564.2:n.3504G>C

This HGVS expression did not pass validation

Protein change:

G1003R

Links:

dbSNP: rs779253997

NCBI 1000 Genomes Browser:

rs779253997

Molecular consequence:

• NM_001257966.2:c.2129-394G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193640.2:c.3007G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.3271G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.3343G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.3296G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.3504G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]