ClinVar

NM_201253.3(CRB1):c.1014C>A (p.Ile338=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197356856 (on Assembly GRCh38)
• Chr1: 197325986 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1014C>A (p.Ile338=)

HGVS:

• NC_000001.11:g.197356856C>A
• NG_008483.2:g.160395C>A
• NM_001193640.2:c.678C>A
• NM_001257965.2:c.807C>A
• NM_001257966.2:c.1014C>A
• NM_201253.3:c.1014C>AMANE SELECT
• NP_001180569.1:p.Ile226=
• NP_001244894.1:p.Ile269=
• NP_001244895.1:p.Ile338=
• NP_957705.1:p.Ile338=
• NC_000001.10:g.197325986C>A
• NM_201253.2:c.1014C>A
• NR_047563.2:n.1175C>A
• NR_047564.2:n.1175C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs771549675

NCBI 1000 Genomes Browser:

rs771549675

Molecular consequence:

• NR_047563.2:n.1175C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.1175C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.678C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.807C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.1014C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.1014C>A - synonymous variant - [Sequence Ontology: SO:0001819]