ClinVar

NM_174878.3(CLRN1):c.660C>T (p.Asp220=)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150927975 (on Assembly GRCh38)
• Chr3: 150645762 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.660C>T (p.Asp220=)

HGVS:

• NC_000003.12:g.150927975G>A
• NG_009168.1:g.50025C>T
• NM_001195794.1:c.699C>T
• NM_001256819.2:c.*274C>T
• NM_052995.2:c.342+90C>T
• NM_174878.3:c.660C>TMANE SELECT
• NP_001182723.1:p.Asp233=
• NP_777367.1:p.Asp220=
• LRG_700t1:c.699C>T
• LRG_700t2:c.342+90C>T
• LRG_700:g.50025C>T
• LRG_700p1:p.Asp233=
• NC_000003.11:g.150645762G>A
• NM_174878.2:c.660C>T
• NR_046380.3:n.869C>T
• p.Asp220Asp

This HGVS expression did not pass validation

Links:

dbSNP: rs148752352

NCBI 1000 Genomes Browser:

rs148752352

Molecular consequence:

• NM_001256819.2:c.*274C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_052995.2:c.342+90C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_046380.3:n.869C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001195794.1:c.699C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_174878.3:c.660C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2