ClinVar

NM_174878.3(CLRN1):c.423C>T (p.Ser141=)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150941592 (on Assembly GRCh38)
• Chr3: 150659379 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.423C>T (p.Ser141=)

HGVS:

• NC_000003.12:g.150941592G>A
• NG_009168.1:g.36408C>T
• NM_001195794.1:c.423C>T
• NM_001256819.2:c.*37C>T
• NM_052995.2:c.195C>T
• NM_174878.3:c.423C>TMANE SELECT
• NP_001182723.1:p.Ser141=
• NP_443721.1:p.Ser65=
• NP_777367.1:p.Ser141=
• LRG_700t1:c.423C>T
• LRG_700t2:c.195C>T
• LRG_700:g.36408C>T
• LRG_700p1:p.Ser141=
• LRG_700p2:p.Ser65=
• NC_000003.11:g.150659379G>A
• NR_046380.3:n.593C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001256819.2:c.*37C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_046380.3:n.593C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001195794.1:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052995.2:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_174878.3:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]