ClinVar

NM_174878.3(CLRN1):c.*277GT[13]

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150927632 - 150927633 (on Assembly GRCh38)
• Chr3: 150645419 - 150645420 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.*277GT[13]

HGVS:

• NC_000003.12:g.150927633CA[13]
• NG_009168.1:g.50341GT[13]
• NM_001195794.1:c.*277GT[13]
• NM_001256819.2:c.*590GT[13]
• NM_052995.2:c.342+406GT[13]
• NM_174878.3:c.*277GT[13]MANE SELECT
• LRG_700t1:c.*277GT[13]
• LRG_700t2:c.342+406GT[13]
• LRG_700:g.50341GT[13]
• NC_000003.11:g.150645420CA[13]
• NM_174878.2:c.*303_*304delGT
• NR_046380.3:n.1185GT[13]

This HGVS expression did not pass validation

Links:

dbSNP: rs34027634

NCBI 1000 Genomes Browser:

rs34027634

Molecular consequence:

• NM_001195794.1:c.*277GT[13] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001256819.2:c.*590GT[13] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_174878.3:c.*277GT[13] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_052995.2:c.342+406GT[13] - intron variant - [Sequence Ontology: SO:0001627]
• NR_046380.3:n.1185GT[13] - non-coding transcript variant - [Sequence Ontology: SO:0001619]