ClinVar

NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150928016 (on Assembly GRCh38)
• Chr3: 150645803 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)

HGVS:

• NC_000003.12:g.150928016G>A
• NG_009168.1:g.49984C>T
• NM_001195794.1:c.658C>T
• NM_001256819.2:c.*233C>T
• NM_052995.2:c.342+49C>T
• NM_174878.3:c.619C>TMANE SELECT
• NP_001182723.1:p.Arg220Ter
• NP_777367.1:p.Arg207Ter
• LRG_700t1:c.658C>T
• LRG_700t2:c.342+49C>T
• LRG_700:g.49984C>T
• LRG_700p1:p.Arg220Ter
• NC_000003.11:g.150645803G>A
• NM_174878.2:c.619C>T
• NR_046380.3:n.828C>T

This HGVS expression did not pass validation

Protein change:

R207*

Links:

dbSNP: rs373208120

NCBI 1000 Genomes Browser:

rs373208120

Molecular consequence:

• NM_001256819.2:c.*233C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_052995.2:c.342+49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_046380.3:n.828C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001195794.1:c.658C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_174878.3:c.619C>T - nonsense - [Sequence Ontology: SO:0001587]