ClinVar

NM_201253.3(CRB1):c.2307C>T (p.Arg769=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197427632 (on Assembly GRCh38)
• Chr1: 197396762 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2307C>T (p.Arg769=)

HGVS:

• NC_000001.11:g.197427632C>T
• NG_008483.2:g.231171C>T
• NM_001193640.2:c.1971C>T
• NM_001257965.2:c.2100C>T
• NM_001257966.2:c.2128+5676C>T
• NM_201253.3:c.2307C>TMANE SELECT
• NP_001180569.1:p.Arg657=
• NP_001244894.1:p.Arg700=
• NP_957705.1:p.Arg769=
• NC_000001.10:g.197396762C>T
• NM_201253.2:c.2307C>T
• NR_047563.2:n.2260C>T
• NR_047564.2:n.2468C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs151104285

NCBI 1000 Genomes Browser:

rs151104285

Molecular consequence:

• NM_001257966.2:c.2128+5676C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_047563.2:n.2260C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2468C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.1971C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.2100C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.2307C>T - synonymous variant - [Sequence Ontology: SO:0001819]