ClinVar

NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150941693 (on Assembly GRCh38)
• Chr3: 150659480 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe)

HGVS:

• NC_000003.12:g.150941693G>A
• NG_009168.1:g.36307C>T
• NM_001195794.1:c.322C>T
• NM_001256819.2:c.494C>T
• NM_052995.2:c.94C>T
• NM_174878.3:c.322C>TMANE SELECT
• NP_001182723.1:p.Leu108Phe
• NP_001243748.1:p.Pro165Leu
• NP_443721.1:p.Leu32Phe
• NP_777367.1:p.Leu108Phe
• LRG_700t1:c.322C>T
• LRG_700t2:c.94C>T
• LRG_700:g.36307C>T
• LRG_700p1:p.Leu108Phe
• LRG_700p2:p.Leu32Phe
• NC_000003.11:g.150659480G>A
• NR_046380.3:n.492C>T

This HGVS expression did not pass validation

Protein change:

L108F

Links:

dbSNP: rs144691725

NCBI 1000 Genomes Browser:

rs144691725

Molecular consequence:

• NM_001195794.1:c.322C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256819.2:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_052995.2:c.94C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_174878.3:c.322C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_046380.3:n.492C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]