ClinVar

NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 6495768 (on Assembly GRCh38)
• Chr19: 6495779 (on Assembly GRCh37)

Preferred name:

NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val)

HGVS:

• NC_000019.10:g.6495768C>A
• NG_033896.1:g.12081G>T
• NM_001289123.2:c.884G>T
• NM_001289127.2:c.866G>T
• NM_001289129.2:c.731G>T
• NM_001289130.2:c.515G>T
• NM_001289131.2:c.515G>T
• NM_006087.4:c.731G>TMANE SELECT
• NP_001276052.1:p.Gly295Val
• NP_001276056.1:p.Gly289Val
• NP_001276058.1:p.Gly244Val
• NP_001276059.1:p.Gly172Val
• NP_001276060.1:p.Gly172Val
• NP_006078.2:p.Gly244Val
• NC_000019.9:g.6495779C>A
• NM_006087.3:c.731G>T

This HGVS expression did not pass validation

Protein change:

G172V

Links:

dbSNP: rs886041010

NCBI 1000 Genomes Browser:

rs886041010

Molecular consequence:

• NM_001289123.2:c.884G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289127.2:c.866G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289129.2:c.731G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289130.2:c.515G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289131.2:c.515G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006087.4:c.731G>T - missense variant - [Sequence Ontology: SO:0001583]