ClinVar

NM_201253.3(CRB1):c.1752C>T (p.Asp584=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421580 (on Assembly GRCh38)
• Chr1: 197390710 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1752C>T (p.Asp584=)

HGVS:

• NC_000001.11:g.197421580C>T
• NG_008483.2:g.225119C>T
• NM_001193640.2:c.1416C>T
• NM_001257965.2:c.1545C>T
• NM_001257966.2:c.1752C>T
• NM_201253.3:c.1752C>TMANE SELECT
• NP_001180569.1:p.Asp472=
• NP_001244894.1:p.Asp515=
• NP_001244895.1:p.Asp584=
• NP_957705.1:p.Asp584=
• NC_000001.10:g.197390710C>T
• NM_001257965.2:c.1545C>T
• NM_201253.2:c.1752C>T
• NR_047564.2:n.1913C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs750442312

NCBI 1000 Genomes Browser:

rs750442312

Molecular consequence:

• NR_047564.2:n.1913C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.1416C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.1545C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.1752C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.1752C>T - synonymous variant - [Sequence Ontology: SO:0001819]