ClinVar

NM_006087.4(TUBB4A):c.429G>A (p.Thr143=)

Gene:

TUBB4A:tubulin beta 4A class IVa [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 6496070 (on Assembly GRCh38)
• Chr19: 6496081 (on Assembly GRCh37)

Preferred name:

NM_006087.4(TUBB4A):c.429G>A (p.Thr143=)

HGVS:

• NC_000019.10:g.6496070C>T
• NG_033896.1:g.11779G>A
• NM_001289123.2:c.582G>A
• NM_001289127.2:c.564G>A
• NM_001289129.2:c.429G>A
• NM_001289130.2:c.213G>A
• NM_001289131.2:c.213G>A
• NM_006087.4:c.429G>AMANE SELECT
• NP_001276052.1:p.Thr194=
• NP_001276056.1:p.Thr188=
• NP_001276058.1:p.Thr143=
• NP_001276059.1:p.Thr71=
• NP_001276060.1:p.Thr71=
• NP_006078.2:p.Thr143=
• NC_000019.9:g.6496081C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001289123.2:c.582G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289127.2:c.564G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289129.2:c.429G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289130.2:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289131.2:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006087.4:c.429G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2