ClinVar

NM_201253.3(CRB1):c.1971del (p.Asn657fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421799 (on Assembly GRCh38)
• Chr1: 197390929 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1971del (p.Asn657fs)

HGVS:

• NC_000001.11:g.197421799del
• NG_008483.2:g.225338del
• NM_001193640.2:c.1635del
• NM_001257965.2:c.1764del
• NM_001257966.2:c.1971del
• NM_201253.3:c.1971delMANE SELECT
• NP_001180569.1:p.Asn545fs
• NP_001244894.1:p.Asn588fs
• NP_001244895.1:p.Asn657fs
• NP_957705.1:p.Asn657fs
• NC_000001.10:g.197390929del
• NM_201253.2:c.1971del
• NR_047563.2:n.1924del
• NR_047564.2:n.2132del

This HGVS expression did not pass validation

Protein change:

N545fs

Links:

dbSNP: rs1664343244

NCBI 1000 Genomes Browser:

rs1664343244

Molecular consequence:

• NM_001193640.2:c.1635del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001257965.2:c.1764del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001257966.2:c.1971del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_201253.3:c.1971del - frameshift variant - [Sequence Ontology: SO:0001589]
• NR_047563.2:n.1924del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2132del - non-coding transcript variant - [Sequence Ontology: SO:0001619]