ClinVar

NM_001481.3(GAS8):c.1064A>T (p.Glu355Val)

Gene:

GAS8:growth arrest specific 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 90040352 (on Assembly GRCh38)
• Chr16: 90106760 (on Assembly GRCh37)

Preferred name:

NM_001481.3(GAS8):c.1064A>T (p.Glu355Val)

HGVS:

• NC_000016.10:g.90040352A>T
• NG_046598.1:g.25724A>T
• NM_001286205.2:c.815A>T
• NM_001286208.2:c.488A>T
• NM_001286209.2:c.989A>T
• NM_001481.2:c.1064A>T
• NM_001481.3:c.1064A>TMANE SELECT
• NP_001273134.1:p.Glu272Val
• NP_001273137.1:p.Glu163Val
• NP_001273138.1:p.Glu330Val
• NP_001472.1:p.Glu355Val
• NC_000016.9:g.90106760A>T
• NR_027335.2:n.758T>A

This HGVS expression did not pass validation

Protein change:

E163V

Molecular consequence:

• NM_001286205.2:c.815A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286208.2:c.488A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286209.2:c.989A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001481.3:c.1064A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027335.2:n.758T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]