ClinVar

NM_016824.5(ADD3):c.213G>A (p.Leu71=)

Gene:

ADD3:adducin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110112794 (on Assembly GRCh38)
• Chr10: 111872552 (on Assembly GRCh37)

Preferred name:

NM_016824.5(ADD3):c.213G>A (p.Leu71=)

HGVS:

• NC_000010.11:g.110112794G>A
• NG_051033.1:g.121445G>A
• NM_001121.4:c.213G>A
• NM_001320591.2:c.213G>A
• NM_001320592.2:c.213G>A
• NM_001320593.2:c.213G>A
• NM_001320594.2:c.-22G>A
• NM_016824.5:c.213G>AMANE SELECT
• NM_019903.5:c.213G>A
• NP_001112.2:p.Leu71=
• NP_001307520.1:p.Leu71=
• NP_001307521.1:p.Leu71=
• NP_001307522.1:p.Leu71=
• NP_058432.1:p.Leu71=
• NP_063968.1:p.Leu71=
• NC_000010.10:g.111872552G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs780693571

NCBI 1000 Genomes Browser:

rs780693571

Molecular consequence:

• NM_001320594.2:c.-22G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001121.4:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320591.2:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320592.2:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320593.2:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016824.5:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_019903.5:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]