ClinVar

NM_201253.3(CRB1):c.2598A>C (p.Pro866=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197427923 (on Assembly GRCh38)
• Chr1: 197397053 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2598A>C (p.Pro866=)

HGVS:

• NC_000001.11:g.197427923A>C
• NG_008483.2:g.231462A>C
• NG_008483.3:g.231421A>C
• NM_001193640.2:c.2262A>C
• NM_001257965.2:c.2391A>C
• NM_001257966.2:c.2128+5967A>C
• NM_201253.3:c.2598A>CMANE SELECT
• NP_001180569.1:p.Pro754=
• NP_001244894.1:p.Pro797=
• NP_957705.1:p.Pro866=
• NC_000001.10:g.197397053A>C
• NR_047563.2:n.2551A>C
• NR_047564.2:n.2759A>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001257966.2:c.2128+5967A>C - intron variant - [Sequence Ontology: SO:0001627]
• NR_047563.2:n.2551A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2759A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.2262A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.2391A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.2598A>C - synonymous variant - [Sequence Ontology: SO:0001819]