ClinVar

NM_201253.3(CRB1):c.3348C>T (p.Phe1116=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197435211 (on Assembly GRCh38)
• Chr1: 197404341 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.3348C>T (p.Phe1116=)

HGVS:

• NC_000001.11:g.197435211C>T
• NG_008483.2:g.238750C>T
• NG_008483.3:g.238709C>T
• NM_001193640.2:c.3012C>T
• NM_001257965.2:c.3276C>T
• NM_001257966.2:c.2129-389C>T
• NM_201253.3:c.3348C>TMANE SELECT
• NP_001180569.1:p.Phe1004=
• NP_001244894.1:p.Phe1092=
• NP_957705.1:p.Phe1116=
• NC_000001.10:g.197404341C>T
• NR_047563.2:n.3301C>T
• NR_047564.2:n.3509C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001257966.2:c.2129-389C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_047563.2:n.3301C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.3509C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.3012C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.3276C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.3348C>T - synonymous variant - [Sequence Ontology: SO:0001819]