ClinVar

NM_201253.3(CRB1):c.2677-343G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197429106 (on Assembly GRCh38)
• Chr1: 197398236 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2677-343G>A

HGVS:

• NC_000001.11:g.197429106G>A
• NG_008483.2:g.232645G>A
• NM_001193640.2:c.2341-343G>A
• NM_001257965.2:c.2602G>A
• NM_001257966.2:c.2129-6494G>A
• NM_201253.3:c.2677-343G>AMANE SELECT
• NP_001244894.1:p.Gly868Arg
• NC_000001.10:g.197398236G>A

This HGVS expression did not pass validation

Protein change:

G868R

Links:

dbSNP: rs760861776

NCBI 1000 Genomes Browser:

rs760861776

Molecular consequence:

• NM_001193640.2:c.2341-343G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257966.2:c.2129-6494G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_201253.3:c.2677-343G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257965.2:c.2602G>A - missense variant - [Sequence Ontology: SO:0001583]