ClinVar

NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197477821 (on Assembly GRCh38)
• Chr1: 197446951 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)

HGVS:

• NC_000001.11:g.197477821G>A
• NG_008483.2:g.281360G>A
• NM_001193640.2:c.3827G>A
• NM_001257965.2:c.4091G>A
• NM_001257966.2:c.2555G>A
• NM_201253.3:c.4163G>AMANE SELECT
• NP_001180569.1:p.Gly1276Asp
• NP_001244894.1:p.Gly1364Asp
• NP_001244895.1:p.Gly852Asp
• NP_957705.1:p.Gly1388Asp
• NC_000001.10:g.197446951G>A
• NM_201253.2:c.4163G>A
• NR_047563.2:n.4116G>A
• NR_047564.2:n.4566G>A

This HGVS expression did not pass validation

Protein change:

G1276D

Links:

dbSNP: rs765740058

NCBI 1000 Genomes Browser:

rs765740058

Molecular consequence:

• NM_001193640.2:c.3827G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.4091G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.2555G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.4163G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.4116G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.4566G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]