ClinVar

NM_001367178.1(TEDC1):c.312G>A (p.Ser104=)

Gene:

TEDC1:tubulin epsilon and delta complex 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.33

Genomic location:

• Chr14: 105492192 (on Assembly GRCh38)
• Chr14: 105958529 (on Assembly GRCh37)

Preferred name:

NM_001367178.1(TEDC1):c.312G>A (p.Ser104=)

HGVS:

• NC_000014.9:g.105492192G>A
• NM_001134875.2:c.312G>A
• NM_001134876.2:c.312G>A
• NM_001134877.1:c.189G>A
• NM_001198983.2:c.195G>A
• NM_001367178.1:c.312G>AMANE SELECT
• NP_001128347.1:p.Ser104=
• NP_001128348.1:p.Ser104=
• NP_001128349.1:p.Ser63=
• NP_001185912.1:p.Ser65=
• NP_001354107.1:p.Ser104=
• NC_000014.8:g.105958529G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs782599615

NCBI 1000 Genomes Browser:

rs782599615

Molecular consequence:

• NM_001134875.2:c.312G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134876.2:c.312G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134877.1:c.189G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001198983.2:c.195G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001367178.1:c.312G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1