ClinVar

NM_001162501.2(TNRC6B):c.622A>G (p.Thr208Ala)

Gene:

TNRC6B:trinucleotide repeat containing adaptor 6B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 40264852 (on Assembly GRCh38)
• Chr22: 40660856 (on Assembly GRCh37)

Preferred name:

NM_001162501.2(TNRC6B):c.622A>G (p.Thr208Ala)

HGVS:

• NC_000022.11:g.40264852A>G
• NM_001024843.2:c.565+2679A>G
• NM_001162501.2:c.622A>GMANE SELECT
• NM_015088.3:c.622A>G
• NP_001155973.1:p.Thr208Ala
• NP_055903.2:p.Thr208Ala
• NC_000022.10:g.40660856A>G
• NM_001162501.1:c.622A>G

This HGVS expression did not pass validation

Protein change:

T208A

Molecular consequence:

• NM_001024843.2:c.565+2679A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001162501.2:c.622A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_015088.3:c.622A>G - missense variant - [Sequence Ontology: SO:0001583]