ClinVar

NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197427823 (on Assembly GRCh38)
• Chr1: 197396953 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)

HGVS:

• NC_000001.11:g.197427823G>A
• NG_008483.2:g.231362G>A
• NM_001193640.2:c.2162G>A
• NM_001257965.2:c.2291G>A
• NM_001257966.2:c.2128+5867G>A
• NM_201253.3:c.2498G>AMANE SELECT
• NP_001180569.1:p.Gly721Asp
• NP_001244894.1:p.Gly764Asp
• NP_957705.1:p.Gly833Asp
• NC_000001.10:g.197396953G>A
• NC_000001.10:g.197396953G>A
• NM_201253.2:c.2498G>A
• NR_047563.2:n.2451G>A
• NR_047564.2:n.2659G>A

This HGVS expression did not pass validation

Protein change:

G721D

Links:

dbSNP: rs1571540258

NCBI 1000 Genomes Browser:

rs1571540258

Molecular consequence:

• NM_001257966.2:c.2128+5867G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193640.2:c.2162G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.2291G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.2498G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.2451G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2659G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]