ClinVar

NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421737 (on Assembly GRCh38)
• Chr1: 197390867 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser)

HGVS:

• NC_000001.11:g.197421737C>T
• NG_008483.2:g.225276C>T
• NM_001193640.2:c.1573C>T
• NM_001257965.2:c.1702C>T
• NM_001257966.2:c.1909C>T
• NM_201253.3:c.1909C>TMANE SELECT
• NP_001180569.1:p.Pro525Ser
• NP_001244894.1:p.Pro568Ser
• NP_001244895.1:p.Pro637Ser
• NP_957705.1:p.Pro637Ser
• NC_000001.10:g.197390867C>T
• NC_000001.10:g.197390867C>T
• NM_201253.2:c.1909C>T
• NR_047564.2:n.2070C>T

This HGVS expression did not pass validation

Protein change:

P525S

Links:

dbSNP: rs1457623741

NCBI 1000 Genomes Browser:

rs1457623741

Molecular consequence:

• NM_001193640.2:c.1573C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.1702C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.1909C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.1909C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_047564.2:n.2070C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]