ClinVar

NM_006087.4(TUBB4A):c.537G>A (p.Val179=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 6495962 (on Assembly GRCh38)
• Chr19: 6495973 (on Assembly GRCh37)

Preferred name:

NM_006087.4(TUBB4A):c.537G>A (p.Val179=)

HGVS:

• NC_000019.10:g.6495962C>T
• NG_033896.1:g.11887G>A
• NM_001289123.2:c.690G>A
• NM_001289127.2:c.672G>A
• NM_001289129.2:c.537G>A
• NM_001289130.2:c.321G>A
• NM_001289131.2:c.321G>A
• NM_006087.4:c.537G>AMANE SELECT
• NP_001276052.1:p.Val230=
• NP_001276056.1:p.Val224=
• NP_001276058.1:p.Val179=
• NP_001276059.1:p.Val107=
• NP_001276060.1:p.Val107=
• NP_006078.2:p.Val179=
• NC_000019.9:g.6495973C>T
• NM_006087.2:c.537G>A
• NR_030585.1:n.15C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001289123.2:c.690G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289127.2:c.672G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289129.2:c.537G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289130.2:c.321G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289131.2:c.321G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006087.4:c.537G>A - synonymous variant - [Sequence Ontology: SO:0001819]