ClinVar

NM_174878.3(CLRN1):c.561C>A (p.Thr187=)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150928074 (on Assembly GRCh38)
• Chr3: 150645861 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.561C>A (p.Thr187=)

HGVS:

• NC_000003.12:g.150928074G>T
• NG_009168.1:g.49926C>A
• NM_001195794.1:c.600C>A
• NM_001256819.2:c.*175C>A
• NM_052995.2:c.333C>A
• NM_174878.3:c.561C>AMANE SELECT
• NP_001182723.1:p.Thr200=
• NP_443721.1:p.Thr111=
• NP_777367.1:p.Thr187=
• LRG_700t1:c.600C>A
• LRG_700t2:c.333C>A
• LRG_700:g.49926C>A
• LRG_700p1:p.Thr200=
• LRG_700p2:p.Thr111=
• NC_000003.11:g.150645861G>T
• NR_046380.3:n.770C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001256819.2:c.*175C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_046380.3:n.770C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001195794.1:c.600C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052995.2:c.333C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_174878.3:c.561C>A - synonymous variant - [Sequence Ontology: SO:0001819]