ClinVar

NM_201253.3(CRB1):c.1194C>T (p.Val398=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421022 (on Assembly GRCh38)
• Chr1: 197390152 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1194C>T (p.Val398=)

HGVS:

• NC_000001.11:g.197421022C>T
• NG_008483.2:g.224561C>T
• NM_001193640.2:c.858C>T
• NM_001257965.2:c.987C>T
• NM_001257966.2:c.1194C>T
• NM_201253.3:c.1194C>TMANE SELECT
• NP_001180569.1:p.Val286=
• NP_001244894.1:p.Val329=
• NP_001244895.1:p.Val398=
• NP_957705.1:p.Val398=
• NC_000001.10:g.197390152C>T
• NR_047563.2:n.1355C>T
• NR_047564.2:n.1355C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1211619415

NCBI 1000 Genomes Browser:

rs1211619415

Molecular consequence:

• NR_047563.2:n.1355C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.1355C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.987C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]