ClinVar

NM_174878.3(CLRN1):c.433+1061A>T

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150940521 (on Assembly GRCh38)
• Chr3: 150658308 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.433+1061A>T

HGVS:

• NC_000003.12:g.150940521T>A
• NG_009168.1:g.37479A>T
• NM_001195794.1:c.434-2A>T
• NM_001256819.2:c.*47+1061A>T
• NM_052995.2:c.205+1061A>T
• NM_174878.3:c.433+1061A>TMANE SELECT
• LRG_700t1:c.434-2A>T
• LRG_700t2:c.205+1061A>T
• LRG_700:g.37479A>T
• NC_000003.11:g.150658308T>A
• NM_174878.2:c.433+1061A>T
• NM_174878.3:c.433+1061A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs567709615

NCBI 1000 Genomes Browser:

rs567709615

Molecular consequence:

• NM_001256819.2:c.*47+1061A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_052995.2:c.205+1061A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_174878.3:c.433+1061A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195794.1:c.434-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]