ClinVar

NM_201253.3(CRB1):c.174C>T (p.Asp58=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197328525 (on Assembly GRCh38)
• Chr1: 197297655 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.174C>T (p.Asp58=)

HGVS:

• NC_000001.11:g.197328525C>T
• NG_008483.2:g.132064C>T
• NG_008483.3:g.132023C>T
• NM_001193640.2:c.174C>T
• NM_001257965.2:c.-34C>T
• NM_001257966.2:c.174C>T
• NM_201253.3:c.174C>TMANE SELECT
• NP_001180569.1:p.Asp58=
• NP_001244895.1:p.Asp58=
• NP_957705.1:p.Asp58=
• NC_000001.10:g.197297655C>T
• NR_047563.2:n.335C>T
• NR_047564.2:n.335C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001257965.2:c.-34C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_047563.2:n.335C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.335C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.174C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.174C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.174C>T - synonymous variant - [Sequence Ontology: SO:0001819]