ClinVar

NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197434752 (on Assembly GRCh38)
• Chr1: 197403882 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu)

HGVS:

• NC_000001.11:g.197434752C>A
• NG_008483.2:g.238291C>A
• NM_001193640.2:c.2553C>A
• NM_001257965.2:c.2817C>A
• NM_001257966.2:c.2129-848C>A
• NM_201253.3:c.2889C>AMANE SELECT
• NP_001180569.1:p.Phe851Leu
• NP_001244894.1:p.Phe939Leu
• NP_957705.1:p.Phe963Leu
• NC_000001.10:g.197403882C>A
• NR_047563.2:n.2842C>A
• NR_047564.2:n.3050C>A

This HGVS expression did not pass validation

Protein change:

F851L

Links:

dbSNP: rs905306614

NCBI 1000 Genomes Browser:

rs905306614

Molecular consequence:

• NM_001257966.2:c.2129-848C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193640.2:c.2553C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.2817C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.2889C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.2842C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.3050C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]