ClinVar

NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)

Genes:

CLRN1-AS1:CLRN1 antisense RNA 1 [Gene - HGNC]
CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150972689 (on Assembly GRCh38)
• Chr3: 150690476 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)

HGVS:

• NC_000003.12:g.150972689T>A
• NG_009168.1:g.5311A>T
• NM_001195794.1:c.20A>T
• NM_001256819.2:c.20A>T
• NM_174878.3:c.20A>TMANE SELECT
• NP_001182723.1:p.Lys7Ile
• NP_001243748.1:p.Lys7Ile
• NP_777367.1:p.Lys7Ile
• LRG_700t1:c.20A>T
• LRG_700:g.5311A>T
• LRG_700p1:p.Lys7Ile
• NC_000003.11:g.150690476T>A
• NM_001195794.1:c.20A>T
• NM_174878.2:c.20A>T
• NR_024066.2:n.12T>A
• NR_046380.3:n.39A>T

This HGVS expression did not pass validation

Protein change:

K7I

Links:

dbSNP: rs3796241

NCBI 1000 Genomes Browser:

rs3796241

Molecular consequence:

• NM_001195794.1:c.20A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256819.2:c.20A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_174878.3:c.20A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_024066.2:n.12T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_046380.3:n.39A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]