ClinVar

NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197434937 (on Assembly GRCh38)
• Chr1: 197404067 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile)

HGVS:

• NC_000001.11:g.197434937G>T
• NG_008483.2:g.238476G>T
• NM_001193640.2:c.2738G>T
• NM_001257965.2:c.3002G>T
• NM_001257966.2:c.2129-663G>T
• NM_201253.3:c.3074G>TMANE SELECT
• NP_001180569.1:p.Ser913Ile
• NP_001244894.1:p.Ser1001Ile
• NP_957705.1:p.Ser1025Ile
• NC_000001.10:g.197404067G>T
• NM_201253.2:c.3074G>T
• NR_047563.2:n.3027G>T
• NR_047564.2:n.3235G>T
• P82279:p.Ser1025Ile

This HGVS expression did not pass validation

Protein change:

S1001I

Links:

UniProtKB: P82279#VAR_022972; dbSNP: rs62636274

NCBI 1000 Genomes Browser:

rs62636274

Molecular consequence:

• NM_001257966.2:c.2129-663G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193640.2:c.2738G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.3002G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.3074G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.3027G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.3235G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]