ClinVar

NM_183357.3(ADCY5):c.1968C>T (p.Ile656=)

Gene:

ADCY5:adenylate cyclase 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.1

Genomic location:

• Chr3: 123325442 (on Assembly GRCh38)
• Chr3: 123044289 (on Assembly GRCh37)

Preferred name:

NM_183357.3(ADCY5):c.1968C>T (p.Ile656=)

HGVS:

• NC_000003.12:g.123325442G>A
• NG_033882.1:g.128104C>T
• NM_001199642.1:c.918C>T
• NM_001378259.1:c.1968C>T
• NM_183357.3:c.1968C>TMANE SELECT
• NP_001186571.1:p.Ile306=
• NP_001365188.1:p.Ile656=
• NP_899200.1:p.Ile656=
• NP_899200.1:p.Ile656=
• NC_000003.11:g.123044289G>A
• NC_000003.11:g.123044289G>A
• NM_183357.2:c.1968C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138891983

NCBI 1000 Genomes Browser:

rs138891983

Molecular consequence:

• NM_001199642.1:c.918C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378259.1:c.1968C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183357.3:c.1968C>T - synonymous variant - [Sequence Ontology: SO:0001819]