ClinVar

NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421008 (on Assembly GRCh38)
• Chr1: 197390138 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)

HGVS:

• NC_000001.11:g.197421008T>C
• NG_008483.2:g.224547T>C
• NM_001193640.2:c.844T>C
• NM_001257965.2:c.973T>C
• NM_001257966.2:c.1180T>C
• NM_201253.3:c.1180T>CMANE SELECT
• NP_001180569.1:p.Cys282Arg
• NP_001244894.1:p.Cys325Arg
• NP_001244895.1:p.Cys394Arg
• NP_957705.1:p.Cys394Arg
• NC_000001.10:g.197390138T>C
• NM_201253.2:c.1180T>C
• NR_047563.2:n.1341T>C
• NR_047564.2:n.1341T>C
• p.(Cys394Arg)

This HGVS expression did not pass validation

Protein change:

C282R

Links:

dbSNP: rs786205450

NCBI 1000 Genomes Browser:

rs786205450

Molecular consequence:

• NM_001193640.2:c.844T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.973T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.1180T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.1180T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.1341T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.1341T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]