ClinVar

NM_201253.3(CRB1):c.156T>C (p.Asn52=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197328507 (on Assembly GRCh38)
• Chr1: 197297637 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.156T>C (p.Asn52=)

HGVS:

• NC_000001.11:g.197328507T>C
• NG_008483.2:g.132046T>C
• NM_001193640.2:c.156T>C
• NM_001257965.2:c.-52T>C
• NM_001257966.2:c.156T>C
• NM_201253.3:c.156T>CMANE SELECT
• NP_001180569.1:p.Asn52=
• NP_001244895.1:p.Asn52=
• NP_957705.1:p.Asn52=
• NC_000001.10:g.197297637T>C
• NM_201253.2:c.156T>C
• NR_047563.2:n.317T>C
• NR_047564.2:n.317T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs143046320

NCBI 1000 Genomes Browser:

rs143046320

Molecular consequence:

• NM_001257965.2:c.-52T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_047563.2:n.317T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.317T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.156T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.156T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.156T>C - synonymous variant - [Sequence Ontology: SO:0001819]