ClinVar

NM_174878.3(CLRN1):c.301_305del (p.Val101fs)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150941710 - 150941714 (on Assembly GRCh38)
• Chr3: 150659497 - 150659501 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.301_305del (p.Val101fs)

Other names:

p.(Val101SerfsTer27)

HGVS:

• NC_000003.11:g.150659497_150659501del
• NC_000003.12:g.150941712_150941716del
• NG_009168.1:g.36286_36290del
• NM_001195794.1:c.301_305del
• NM_001256819.2:c.473_477del
• NM_052995.2:c.73_77del
• NM_174878.3:c.301_305delMANE SELECT
• NP_001182723.1:p.Val101fs
• NP_001243748.1:p.Cys158fs
• NP_443721.1:p.Val25fs
• NP_777367.1:p.Val101fs
• LRG_700t1:c.301_305del
• LRG_700t2:c.73_77del
• LRG_700:g.36286_36290del
• LRG_700p1:p.Val101fs
• LRG_700p2:p.Val25fs
• NC_000003.11:g.150659497_150659501del
• NC_000003.11:g.150659497_150659501delATGAC
• NC_000003.11:g.150659499_150659503del
• NM_001195794.1:c.301_305delGTCAT
• NM_174878.2:c.301_305delGTCAT
• NR_046380.3:n.471_475del
• c.301_305delGTCAT
• p.Val101SerfsX27

This HGVS expression did not pass validation

Protein change:

C158fs

Links:

dbSNP: rs397517932

NCBI 1000 Genomes Browser:

rs397517932

Molecular consequence:

• NM_001195794.1:c.301_305del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001256819.2:c.473_477del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_052995.2:c.73_77del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_174878.3:c.301_305del - frameshift variant - [Sequence Ontology: SO:0001589]
• NR_046380.3:n.471_475del - non-coding transcript variant - [Sequence Ontology: SO:0001619]