ClinVar

NM_177438.3(DICER1):c.3198T>C (p.Thr1066=)

Gene:

DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.13

Genomic location:

• Chr14: 95105142 (on Assembly GRCh38)
• Chr14: 95571479 (on Assembly GRCh37)

Preferred name:

NM_177438.3(DICER1):c.3198T>C (p.Thr1066=)

HGVS:

• NC_000014.9:g.95105142A>G
• NG_016311.1:g.57281T>C
• NM_001195573.1:c.3198T>C
• NM_001271282.3:c.3198T>C
• NM_001291628.2:c.3198T>C
• NM_030621.4:c.3198T>C
• NM_177438.3:c.3198T>CMANE SELECT
• NP_001182502.1:p.Thr1066=
• NP_001258211.1:p.Thr1066=
• NP_001278557.1:p.Thr1066=
• NP_085124.2:p.Thr1066=
• NP_803187.1:p.Thr1066=
• NP_803187.1:p.Thr1066=
• LRG_492t1:c.3198T>C
• LRG_492:g.57281T>C
• LRG_492p1:p.Thr1066=
• NC_000014.8:g.95571479A>G
• NM_030621.3:c.3198T>C
• NM_177438.2:c.3198T>C
• NM_177438.3:c.3198T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs114964211

NCBI 1000 Genomes Browser:

rs114964211

Molecular consequence:

• NM_001195573.1:c.3198T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271282.3:c.3198T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001291628.2:c.3198T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_030621.4:c.3198T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_177438.3:c.3198T>C - synonymous variant - [Sequence Ontology: SO:0001819]