ClinVar

NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=)

Gene:

SYNJ1:synaptojanin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

• Chr21: 32665045 (on Assembly GRCh38)
• Chr21: 34037355 (on Assembly GRCh37)

Preferred name:

NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=)

HGVS:

• NC_000021.9:g.32665045A>G
• NG_030017.2:g.67995T>C
• NM_001160302.2:c.2172T>C
• NM_001160306.2:c.2157T>C
• NM_003895.4:c.2289T>C
• NM_203446.3:c.2172T>CMANE SELECT
• NP_001153774.1:p.Tyr724=
• NP_001153778.1:p.Tyr719=
• NP_003886.3:p.Tyr763=
• NP_003886.3:p.Tyr763_Val764=
• NP_982271.3:p.Tyr724=
• NC_000021.8:g.34037355A>G
• NC_000021.8:g.34037355A>G
• NG_030017.1:g.67997T>C
• NM_003895.3:c.2289T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs144454116

NCBI 1000 Genomes Browser:

rs144454116

Molecular consequence:

• NM_001160302.2:c.2172T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160306.2:c.2157T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003895.4:c.2289T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_203446.3:c.2172T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1