ClinVar

NM_174878.3(CLRN1):c.460T>C (p.Leu154=)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

• Chr3: 150928175 (on Assembly GRCh38)
• Chr3: 150645962 (on Assembly GRCh37)

Preferred name:

NM_174878.3(CLRN1):c.460T>C (p.Leu154=)

HGVS:

• NC_000003.12:g.150928175A>G
• NG_009168.1:g.49825T>C
• NM_001195794.1:c.499T>C
• NM_001256819.2:c.*74T>C
• NM_052995.2:c.232T>C
• NM_174878.3:c.460T>CMANE SELECT
• NP_001182723.1:p.Leu167=
• NP_443721.1:p.Leu78=
• NP_777367.1:p.Leu154=
• LRG_700t1:c.499T>C
• LRG_700t2:c.232T>C
• LRG_700:g.49825T>C
• LRG_700p1:p.Leu167=
• LRG_700p2:p.Leu78=
• NC_000003.11:g.150645962A>G
• NC_000003.11:g.150645962A>G
• NM_174878.2:c.460T>C
• NR_046380.3:n.669T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1576623506

NCBI 1000 Genomes Browser:

rs1576623506

Molecular consequence:

• NM_001256819.2:c.*74T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_046380.3:n.669T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001195794.1:c.499T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052995.2:c.232T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_174878.3:c.460T>C - synonymous variant - [Sequence Ontology: SO:0001819]