ClinVar

NM_022065.5(THADA):c.4434G>A (p.Gln1478=)

Gene:

THADA:THADA armadillo repeat containing [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 43320450 (on Assembly GRCh38)
• Chr2: 43547589 (on Assembly GRCh37)

Preferred name:

NM_022065.5(THADA):c.4434G>A (p.Gln1478=)

HGVS:

• NC_000002.12:g.43320450C>T
• NG_051580.1:g.280597G>A
• NM_001083953.2:c.4434G>A
• NM_001345923.2:c.4431G>A
• NM_001345924.2:c.4311G>A
• NM_001345925.2:c.4434G>A
• NM_022065.5:c.4434G>AMANE SELECT
• NM_198554.1:c.*505G>A
• NP_001077422.1:p.Gln1478=
• NP_001332852.1:p.Gln1477=
• NP_001332853.1:p.Gln1437=
• NP_001332854.1:p.Gln1478=
• NP_071348.3:p.Gln1478=
• NC_000002.11:g.43547589C>T
• NR_073394.2:n.4376G>A
• NR_144316.2:n.4450G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_073394.2:n.4376G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144316.2:n.4450G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001083953.2:c.4434G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001345923.2:c.4431G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001345924.2:c.4311G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001345925.2:c.4434G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022065.5:c.4434G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1