ClinVar

NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150941647 (on Assembly GRCh38)
• Chr3: 150659434 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)

HGVS:

• NC_000003.12:g.150941647G>T
• NG_009168.1:g.36353C>A
• NM_001195794.1:c.368C>A
• NM_001256819.2:c.540C>A
• NM_052995.2:c.140C>A
• NM_174878.3:c.368C>AMANE SELECT
• NP_001182723.1:p.Ala123Asp
• NP_001243748.1:p.Cys180Ter
• NP_443721.1:p.Ala47Asp
• NP_777367.1:p.Ala123Asp
• LRG_700t1:c.368C>A
• LRG_700t2:c.140C>A
• LRG_700:g.36353C>A
• LRG_700p1:p.Ala123Asp
• LRG_700p2:p.Ala47Asp
• NC_000003.11:g.150659434G>T
• NM_174878.2:c.368C>A
• NR_046380.3:n.538C>A
• c.368C>A

This HGVS expression did not pass validation

Protein change:

A123D

Links:

dbSNP: rs374963432

NCBI 1000 Genomes Browser:

rs374963432

Molecular consequence:

• NM_001195794.1:c.368C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_052995.2:c.140C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_174878.3:c.368C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_046380.3:n.538C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001256819.2:c.540C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1