ClinVar

NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197427726 (on Assembly GRCh38)
• Chr1: 197396856 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)

HGVS:

• NC_000001.11:g.197427726A>T
• NG_008483.2:g.231265A>T
• NM_001193640.2:c.2065A>T
• NM_001257965.2:c.2194A>T
• NM_001257966.2:c.2128+5770A>T
• NM_201253.3:c.2401A>TMANE SELECT
• NP_001180569.1:p.Lys689Ter
• NP_001244894.1:p.Lys732Ter
• NP_957705.1:p.Lys801Ter
• NC_000001.10:g.197396856A>T
• NM_201253.2:c.2401A>T
• NR_047563.2:n.2354A>T
• NR_047564.2:n.2562A>T
• p.Lys801*

This HGVS expression did not pass validation

Protein change:

K689*; LYS801TER

Links:

OMIM: 604210.0008; dbSNP: rs137853137

NCBI 1000 Genomes Browser:

rs137853137

Molecular consequence:

• NM_001257966.2:c.2128+5770A>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_047563.2:n.2354A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2562A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.2065A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001257965.2:c.2194A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_201253.3:c.2401A>T - nonsense - [Sequence Ontology: SO:0001587]