ClinVar

NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197477731 (on Assembly GRCh38)
• Chr1: 197446861 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn)

HGVS:

• NC_000001.11:g.197477731T>A
• NG_008483.2:g.281270T>A
• NM_001193640.2:c.3737T>A
• NM_001257965.2:c.4001T>A
• NM_001257966.2:c.2465T>A
• NM_201253.3:c.4073T>AMANE SELECT
• NP_001180569.1:p.Ile1246Asn
• NP_001244894.1:p.Ile1334Asn
• NP_001244895.1:p.Ile822Asn
• NP_957705.1:p.Ile1358Asn
• NC_000001.10:g.197446861T>A
• NM_201253.2:c.4073T>A
• NR_047563.2:n.4026T>A
• NR_047564.2:n.4476T>A

This HGVS expression did not pass validation

Protein change:

I1246N

Links:

dbSNP: rs1667260204

NCBI 1000 Genomes Browser:

rs1667260204

Molecular consequence:

• NM_001193640.2:c.3737T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.4001T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.2465T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.4073T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.4026T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.4476T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]