ClinVar

NM_201253.3(CRB1):c.1480C>T (p.Leu494=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421308 (on Assembly GRCh38)
• Chr1: 197390438 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1480C>T (p.Leu494=)

HGVS:

• NC_000001.11:g.197421308C>T
• NG_008483.2:g.224847C>T
• NM_001193640.2:c.1144C>T
• NM_001257965.2:c.1273C>T
• NM_001257966.2:c.1480C>T
• NM_201253.3:c.1480C>TMANE SELECT
• NP_001180569.1:p.Leu382=
• NP_001244894.1:p.Leu425=
• NP_001244895.1:p.Leu494=
• NP_957705.1:p.Leu494=
• NC_000001.10:g.197390438C>T
• NR_047563.2:n.1641C>T
• NR_047564.2:n.1641C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs530821170

NCBI 1000 Genomes Browser:

rs530821170

Molecular consequence:

• NR_047563.2:n.1641C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.1641C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.1144C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.1273C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.1480C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.1480C>T - synonymous variant - [Sequence Ontology: SO:0001819]