ClinVar

NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421773 (on Assembly GRCh38)
• Chr1: 197390903 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)

HGVS:

• NC_000001.11:g.197421773G>A
• NG_008483.2:g.225312G>A
• NM_001193640.2:c.1609G>A
• NM_001257965.2:c.1738G>A
• NM_001257966.2:c.1945G>A
• NM_201253.3:c.1945G>AMANE SELECT
• NP_001180569.1:p.Asp537Asn
• NP_001244894.1:p.Asp580Asn
• NP_001244895.1:p.Asp649Asn
• NP_957705.1:p.Asp649Asn
• NC_000001.10:g.197390903G>A
• NM_201253.2:c.1945G>A
• NR_047563.2:n.1898G>A
• NR_047564.2:n.2106G>A

This HGVS expression did not pass validation

Protein change:

D537N

Links:

dbSNP: rs138936375

NCBI 1000 Genomes Browser:

rs138936375

Molecular consequence:

• NM_001193640.2:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257965.2:c.1738G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257966.2:c.1945G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201253.3:c.1945G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_047563.2:n.1898G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2106G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]