ClinVar

NM_016824.5(ADD3):c.147C>T (p.Phe49=)

Gene:

ADD3:adducin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110100800 (on Assembly GRCh38)
• Chr10: 111860558 (on Assembly GRCh37)

Preferred name:

NM_016824.5(ADD3):c.147C>T (p.Phe49=)

HGVS:

• NC_000010.11:g.110100800C>T
• NG_051033.1:g.109451C>T
• NM_001121.4:c.147C>T
• NM_001320591.2:c.147C>T
• NM_001320592.2:c.147C>T
• NM_001320593.2:c.147C>T
• NM_001320594.2:c.-142C>T
• NM_016824.5:c.147C>TMANE SELECT
• NM_019903.5:c.147C>T
• NP_001112.2:p.Phe49=
• NP_001307520.1:p.Phe49=
• NP_001307521.1:p.Phe49=
• NP_001307522.1:p.Phe49=
• NP_058432.1:p.Phe49=
• NP_063968.1:p.Phe49=
• NC_000010.10:g.111860558C>T
• NM_016824.4:c.147C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1488644000

NCBI 1000 Genomes Browser:

rs1488644000

Molecular consequence:

• NM_001320594.2:c.-142C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001121.4:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320591.2:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320592.2:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320593.2:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016824.5:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_019903.5:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]