ClinVar

NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421720 (on Assembly GRCh38)
• Chr1: 197390850 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)

HGVS:

• NC_000001.11:g.197421720A>G
• NG_008483.2:g.225259A>G
• NM_001193640.2:c.1556A>G
• NM_001257965.2:c.1685A>G
• NM_001257966.2:c.1892A>G
• NM_201253.3:c.1892A>GMANE SELECT
• NP_001180569.1:p.Tyr519Cys
• NP_001244894.1:p.Tyr562Cys
• NP_001244895.1:p.Tyr631Cys
• NP_957705.1:p.Tyr631Cys
• NC_000001.10:g.197390850A>G
• NM_201253.2:c.1892A>G
• NR_047564.2:n.2053A>G

This HGVS expression did not pass validation

Protein change:

Y519C

Links:

dbSNP: rs1271816211

NCBI 1000 Genomes Browser:

rs1271816211

Molecular consequence:

• NM_001193640.2:c.1556A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.1685A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.1892A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.1892A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_047564.2:n.2053A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]