ClinVar

NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197427547 (on Assembly GRCh38)
• Chr1: 197396677 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)

HGVS:

• NC_000001.11:g.197427547T>C
• NG_008483.2:g.231086T>C
• NM_001193640.2:c.1886T>C
• NM_001257965.2:c.2015T>C
• NM_001257966.2:c.2128+5591T>C
• NM_201253.3:c.2222T>CMANE SELECT
• NP_001180569.1:p.Met629Thr
• NP_001244894.1:p.Met672Thr
• NP_957705.1:p.Met741Thr
• NC_000001.10:g.197396677T>C
• NM_201253.2:c.2222T>C
• NR_047563.2:n.2175T>C
• NR_047564.2:n.2383T>C
• P82279:p.Met741Thr

This HGVS expression did not pass validation

Protein change:

M629T

Links:

UniProtKB: P82279#VAR_022956; dbSNP: rs62636267

NCBI 1000 Genomes Browser:

rs62636267

Molecular consequence:

• NM_001257966.2:c.2128+5591T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193640.2:c.1886T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.2015T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.2222T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.2175T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2383T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2