ClinVar

NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197328935 (on Assembly GRCh38)
• Chr1: 197298065 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)

HGVS:

• NC_000001.11:g.197328935G>T
• NG_008483.2:g.132474G>T
• NM_001193640.2:c.584G>T
• NM_001257965.2:c.377G>T
• NM_001257966.2:c.584G>T
• NM_201253.3:c.584G>TMANE SELECT
• NP_001180569.1:p.Cys195Phe
• NP_001244894.1:p.Cys126Phe
• NP_001244895.1:p.Cys195Phe
• NP_957705.1:p.Cys195Phe
• NC_000001.10:g.197298065G>T
• NM_201253.2:c.584G>T
• NR_047563.2:n.745G>T
• NR_047564.2:n.745G>T
• P82279:p.Cys195Phe

This HGVS expression did not pass validation

Protein change:

C126F

Links:

UniProtKB: P82279#VAR_022943; dbSNP: rs764256655

NCBI 1000 Genomes Browser:

rs764256655

Molecular consequence:

• NM_001193640.2:c.584G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.377G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.584G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.584G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.745G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.745G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]