ClinVar

NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)

Gene:

TMEM216:transmembrane protein 216 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.2

Genomic location:

• Chr11: 61397964 (on Assembly GRCh38)
• Chr11: 61165436 (on Assembly GRCh37)

Preferred name:

NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)

HGVS:

• NC_000011.10:g.61397964T>C
• NG_032976.1:g.10605T>C
• NM_001173990.3:c.420T>CMANE SELECT
• NM_001173991.3:c.420T>C
• NM_001330285.2:c.237T>C
• NM_016499.6:c.237T>C
• NP_001167461.1:p.Ala140=
• NP_001167462.1:p.Ala140=
• NP_001317214.1:p.Ala79=
• NP_057583.2:p.Ala79=
• LRG_698t1:c.420T>C
• LRG_698t2:c.420T>C
• LRG_698:g.10605T>C
• LRG_698p1:p.Ala140=
• LRG_698p2:p.Ala140=
• NC_000011.9:g.61165436T>C
• NM_001173990.2:c.420T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs749351351

NCBI 1000 Genomes Browser:

rs749351351

Molecular consequence:

• NM_001173990.3:c.420T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173991.3:c.420T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330285.2:c.237T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016499.6:c.237T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2