ClinVar

NM_201253.3(CRB1):c.1640A>C (p.Gln547Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421468 (on Assembly GRCh38)
• Chr1: 197390598 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1640A>C (p.Gln547Pro)

HGVS:

• NC_000001.11:g.197421468A>C
• NG_008483.2:g.225007A>C
• NM_001193640.2:c.1304A>C
• NM_001257965.2:c.1433A>C
• NM_001257966.2:c.1640A>C
• NM_201253.3:c.1640A>CMANE SELECT
• NP_001180569.1:p.Gln435Pro
• NP_001244894.1:p.Gln478Pro
• NP_001244895.1:p.Gln547Pro
• NP_957705.1:p.Gln547Pro
• NC_000001.10:g.197390598A>C
• NM_201253.2:c.1640A>C
• NR_047563.2:n.1801A>C
• NR_047564.2:n.1801A>C

This HGVS expression did not pass validation

Protein change:

Q435P

Links:

dbSNP: rs1167933684

NCBI 1000 Genomes Browser:

rs1167933684

Molecular consequence:

• NM_001193640.2:c.1304A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.1433A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.1640A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.1640A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.1801A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.1801A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]