ClinVar

NM_006087.4(TUBB4A):c.740A>T (p.Asn247Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 6495759 (on Assembly GRCh38)
• Chr19: 6495770 (on Assembly GRCh37)

Preferred name:

NM_006087.4(TUBB4A):c.740A>T (p.Asn247Ile)

HGVS:

• NC_000019.10:g.6495759T>A
• NG_033896.1:g.12090A>T
• NM_001289123.2:c.893A>T
• NM_001289127.2:c.875A>T
• NM_001289129.2:c.740A>T
• NM_001289130.2:c.524A>T
• NM_001289131.2:c.524A>T
• NM_006087.4:c.740A>TMANE SELECT
• NP_001276052.1:p.Asn298Ile
• NP_001276056.1:p.Asn292Ile
• NP_001276058.1:p.Asn247Ile
• NP_001276059.1:p.Asn175Ile
• NP_001276060.1:p.Asn175Ile
• NP_006078.2:p.Asn247Ile
• NC_000019.9:g.6495770T>A

This HGVS expression did not pass validation

Protein change:

N175I

Molecular consequence:

• NM_001289123.2:c.893A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289127.2:c.875A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289129.2:c.740A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289130.2:c.524A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289131.2:c.524A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006087.4:c.740A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1