ClinVar

NM_174878.3(CLRN1):c.350C>T (p.Ala117Val)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150941665 (on Assembly GRCh38)
• Chr3: 150659452 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.350C>T (p.Ala117Val)

HGVS:

• NC_000003.12:g.150941665G>A
• NG_009168.1:g.36335C>T
• NM_001195794.1:c.350C>T
• NM_001256819.2:c.522C>T
• NM_052995.2:c.122C>T
• NM_174878.3:c.350C>TMANE SELECT
• NP_001182723.1:p.Ala117Val
• NP_001243748.1:p.Ser174=
• NP_443721.1:p.Ala41Val
• NP_777367.1:p.Ala117Val
• LRG_700t1:c.350C>T
• LRG_700t2:c.122C>T
• LRG_700:g.36335C>T
• LRG_700p1:p.Ala117Val
• LRG_700p2:p.Ala41Val
• NC_000003.11:g.150659452G>A
• NR_046380.3:n.520C>T

This HGVS expression did not pass validation

Protein change:

A117V

Molecular consequence:

• NM_001195794.1:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_052995.2:c.122C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_174878.3:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_046380.3:n.520C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001256819.2:c.522C>T - synonymous variant - [Sequence Ontology: SO:0001819]