ClinVar

NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197434772 (on Assembly GRCh38)
• Chr1: 197403902 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile)

HGVS:

• NC_000001.11:g.197434772C>T
• NG_008483.2:g.238311C>T
• NM_001193640.2:c.2573C>T
• NM_001257965.2:c.2837C>T
• NM_001257966.2:c.2129-828C>T
• NM_201253.3:c.2909C>TMANE SELECT
• NP_001180569.1:p.Thr858Ile
• NP_001244894.1:p.Thr946Ile
• NP_957705.1:p.Thr970Ile
• NC_000001.10:g.197403902C>T
• NR_047563.2:n.2862C>T
• NR_047564.2:n.3070C>T

This HGVS expression did not pass validation

Protein change:

T858I

Links:

dbSNP: rs766793013

NCBI 1000 Genomes Browser:

rs766793013

Molecular consequence:

• NM_001257966.2:c.2129-828C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193640.2:c.2573C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.2837C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.2909C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.2862C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.3070C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]