ClinVar

NM_174878.3(CLRN1):c.489C>T (p.His163=)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150928146 (on Assembly GRCh38)
• Chr3: 150645933 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.489C>T (p.His163=)

HGVS:

• NC_000003.12:g.150928146G>A
• NG_009168.1:g.49854C>T
• NM_001195794.1:c.528C>T
• NM_001256819.2:c.*103C>T
• NM_052995.2:c.261C>T
• NM_174878.3:c.489C>TMANE SELECT
• NP_001182723.1:p.His176=
• NP_443721.1:p.His87=
• NP_777367.1:p.His163=
• LRG_700t1:c.528C>T
• LRG_700t2:c.261C>T
• LRG_700:g.49854C>T
• LRG_700p1:p.His176=
• LRG_700p2:p.His87=
• NC_000003.11:g.150645933G>A
• NR_046380.3:n.698C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs776813005

NCBI 1000 Genomes Browser:

rs776813005

Molecular consequence:

• NM_001256819.2:c.*103C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_046380.3:n.698C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001195794.1:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052995.2:c.261C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_174878.3:c.489C>T - synonymous variant - [Sequence Ontology: SO:0001819]