ClinVar

NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 6495736 (on Assembly GRCh38)
• Chr19: 6495747 (on Assembly GRCh37)

Preferred name:

NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)

HGVS:

• NC_000019.10:g.6495736C>T
• NG_033896.1:g.12113G>A
• NM_001289123.2:c.916G>A
• NM_001289127.2:c.898G>A
• NM_001289129.2:c.763G>A
• NM_001289130.2:c.547G>A
• NM_001289131.2:c.547G>A
• NM_006087.4:c.763G>AMANE SELECT
• NP_001276052.1:p.Val306Ile
• NP_001276056.1:p.Val300Ile
• NP_001276058.1:p.Val255Ile
• NP_001276059.1:p.Val183Ile
• NP_001276060.1:p.Val183Ile
• NP_006078.2:p.Val255Ile
• NC_000019.9:g.6495747C>T
• NM_001289123.1:c.916G>A
• NM_006087.2:c.763G>A
• NM_006087.3:c.763G>A
• NP_006078.2:p.V255I

This HGVS expression did not pass validation

Protein change:

V183I

Links:

dbSNP: rs767399782

NCBI 1000 Genomes Browser:

rs767399782

Molecular consequence:

• NM_001289123.2:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289127.2:c.898G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289129.2:c.763G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289130.2:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289131.2:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006087.4:c.763G>A - missense variant - [Sequence Ontology: SO:0001583]