ClinVar

NM_174878.3(CLRN1):c.226T>C (p.Leu76=)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150972483 (on Assembly GRCh38)
• Chr3: 150690270 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.226T>C (p.Leu76=)

HGVS:

• NC_000003.12:g.150972483A>G
• NG_009168.1:g.5517T>C
• NM_001195794.1:c.226T>C
• NM_001256819.2:c.226T>C
• NM_174878.3:c.226T>CMANE SELECT
• NP_001182723.1:p.Leu76=
• NP_001243748.1:p.Leu76=
• NP_777367.1:p.Leu76=
• LRG_700t1:c.226T>C
• LRG_700:g.5517T>C
• LRG_700p1:p.Leu76=
• NC_000003.11:g.150690270A>G
• NM_174878.2:c.226T>C
• NR_046380.3:n.245T>C
• p.Leu76Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs139829306

NCBI 1000 Genomes Browser:

rs139829306

Molecular consequence:

• NR_046380.3:n.245T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001195794.1:c.226T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256819.2:c.226T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_174878.3:c.226T>C - synonymous variant - [Sequence Ontology: SO:0001819]