ClinVar

NM_174878.3(CLRN1):c.*315C>T

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150927621 (on Assembly GRCh38)
• Chr3: 150645408 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.*315C>T

HGVS:

• NC_000003.12:g.150927621G>A
• NG_009168.1:g.50379C>T
• NM_001195794.1:c.*315C>T
• NM_001256819.2:c.*628C>T
• NM_052995.2:c.342+444C>T
• NM_174878.3:c.*315C>TMANE SELECT
• LRG_700t1:c.*315C>T
• LRG_700t2:c.342+444C>T
• LRG_700:g.50379C>T
• NC_000003.11:g.150645408G>A
• NM_174878.2:c.*315C>T
• NR_046380.3:n.1223C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1456138

NCBI 1000 Genomes Browser:

rs1456138

Molecular consequence:

• NM_001195794.1:c.*315C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001256819.2:c.*628C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_174878.3:c.*315C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_052995.2:c.342+444C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_046380.3:n.1223C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]