ClinVar

NM_201253.3(CRB1):c.4141C>A (p.Pro1381Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197477799 (on Assembly GRCh38)
• Chr1: 197446929 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.4141C>A (p.Pro1381Thr)

HGVS:

• NC_000001.11:g.197477799C>A
• NG_008483.2:g.281338C>A
• NM_001193640.2:c.3805C>A
• NM_001257965.2:c.4069C>A
• NM_001257966.2:c.2533C>A
• NM_201253.3:c.4141C>AMANE SELECT
• NP_001180569.1:p.Pro1269Thr
• NP_001244894.1:p.Pro1357Thr
• NP_001244895.1:p.Pro845Thr
• NP_957705.1:p.Pro1381Thr
• NC_000001.10:g.197446929C>A
• NM_201253.2:c.4141C>A
• NR_047563.2:n.4094C>A
• NR_047564.2:n.4544C>A

This HGVS expression did not pass validation

Protein change:

P1269T

Links:

dbSNP: rs1201356843

NCBI 1000 Genomes Browser:

rs1201356843

Molecular consequence:

• NM_001193640.2:c.3805C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.4069C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.2533C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.4141C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.4094C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.4544C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]