ClinVar

NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)

Gene:

ADD3:adducin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110122249 (on Assembly GRCh38)
• Chr10: 111882007 (on Assembly GRCh37)

Preferred name:

NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)

HGVS:

• NC_000010.11:g.110122249G>A
• NG_051033.1:g.130900G>A
• NM_001121.4:c.1100G>A
• NM_001320591.2:c.1100G>A
• NM_001320592.2:c.1100G>A
• NM_001320593.2:c.1100G>A
• NM_001320594.2:c.866G>A
• NM_016824.5:c.1100G>AMANE SELECT
• NM_019903.5:c.1100G>A
• NP_001112.2:p.Gly367Asp
• NP_001307520.1:p.Gly367Asp
• NP_001307521.1:p.Gly367Asp
• NP_001307522.1:p.Gly367Asp
• NP_001307523.1:p.Gly289Asp
• NP_058432.1:p.Gly367Asp
• NP_063968.1:p.Gly367Asp
• NC_000010.10:g.111882007G>A
• NM_001320591.1:c.1100G>A
• NM_016824.3:c.1100G>A
• NM_016824.4:c.1100G>A
• Q9UEY8:p.Gly367Asp

This HGVS expression did not pass validation

Protein change:

G289D; GLY367ASP

Links:

UniProtKB: Q9UEY8#VAR_076996; OMIM: 601568.0001; dbSNP: rs564185858

NCBI 1000 Genomes Browser:

rs564185858

Molecular consequence:

• NM_001121.4:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320591.2:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320592.2:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320593.2:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320594.2:c.866G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016824.5:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019903.5:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

effect on protein activity [Variation Ontology: 0053]