ClinVar

NM_201253.3(CRB1):c.4026C>T (p.Ser1342=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197477684 (on Assembly GRCh38)
• Chr1: 197446814 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.4026C>T (p.Ser1342=)

HGVS:

• NC_000001.11:g.197477684C>T
• NG_008483.2:g.281223C>T
• NM_001193640.2:c.3690C>T
• NM_001257965.2:c.3954C>T
• NM_001257966.2:c.2418C>T
• NM_201253.3:c.4026C>TMANE SELECT
• NP_001180569.1:p.Ser1230=
• NP_001244894.1:p.Ser1318=
• NP_001244895.1:p.Ser806=
• NP_957705.1:p.Ser1342=
• NC_000001.10:g.197446814C>T
• NR_047563.2:n.3979C>T
• NR_047564.2:n.4429C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs142057392

NCBI 1000 Genomes Browser:

rs142057392

Molecular consequence:

• NR_047563.2:n.3979C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.4429C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.3690C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.3954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.2418C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.4026C>T - synonymous variant - [Sequence Ontology: SO:0001819]