ClinVar

NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197427633 (on Assembly GRCh38)
• Chr1: 197396763 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)

HGVS:

• NC_000001.11:g.197427633G>A
• NG_008483.2:g.231172G>A
• NM_001193640.2:c.1972G>A
• NM_001257965.2:c.2101G>A
• NM_001257966.2:c.2128+5677G>A
• NM_201253.3:c.2308G>AMANE SELECT
• NP_001180569.1:p.Gly658Ser
• NP_001244894.1:p.Gly701Ser
• NP_957705.1:p.Gly770Ser
• NC_000001.10:g.197396763G>A
• NM_001257965.2:c.2101G>A
• NM_201253.2:c.2308G>A
• NR_047563.2:n.2261G>A
• NR_047564.2:n.2469G>A

This HGVS expression did not pass validation

Protein change:

G658S

Links:

dbSNP: rs767648174

NCBI 1000 Genomes Browser:

rs767648174

Molecular consequence:

• NM_001257966.2:c.2128+5677G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193640.2:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.2101G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.2308G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.2261G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2469G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]