ClinVar

NM_201253.3(CRB1):c.1729G>A (p.Ala577Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421557 (on Assembly GRCh38)
• Chr1: 197390687 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1729G>A (p.Ala577Thr)

HGVS:

• NC_000001.11:g.197421557G>A
• NG_008483.2:g.225096G>A
• NG_008483.3:g.225055G>A
• NM_001193640.2:c.1393G>A
• NM_001257965.2:c.1522G>A
• NM_001257966.2:c.1729G>A
• NM_201253.3:c.1729G>AMANE SELECT
• NP_001180569.1:p.Ala465Thr
• NP_001244894.1:p.Ala508Thr
• NP_001244895.1:p.Ala577Thr
• NP_957705.1:p.Ala577Thr
• NC_000001.10:g.197390687G>A
• NR_047564.2:n.1890G>A

This HGVS expression did not pass validation

Protein change:

A465T

Molecular consequence:

• NM_001193640.2:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.1522G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047564.2:n.1890G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]