ClinVar

NM_201253.3(CRB1):c.1977G>A (p.Ser659=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421805 (on Assembly GRCh38)
• Chr1: 197390935 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1977G>A (p.Ser659=)

HGVS:

• NC_000001.11:g.197421805G>A
• NG_008483.2:g.225344G>A
• NM_001193640.2:c.1641G>A
• NM_001257965.2:c.1770G>A
• NM_001257966.2:c.1977G>A
• NM_201253.3:c.1977G>AMANE SELECT
• NP_001180569.1:p.Ser547=
• NP_001244894.1:p.Ser590=
• NP_001244895.1:p.Ser659=
• NP_957705.1:p.Ser659=
• NC_000001.10:g.197390935G>A
• NM_201253.2:c.1977G>A
• NR_047563.2:n.1930G>A
• NR_047564.2:n.2138G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1457627160

NCBI 1000 Genomes Browser:

rs1457627160

Molecular consequence:

• NR_047563.2:n.1930G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.2138G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.1641G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.1770G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.1977G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.1977G>A - synonymous variant - [Sequence Ontology: SO:0001819]