ClinVar

NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=)

Gene:

SYNJ1:synaptojanin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

• Chr21: 32646445 (on Assembly GRCh38)
• Chr21: 34018755 (on Assembly GRCh37)

Preferred name:

NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=)

HGVS:

• NC_000021.9:g.32646445G>A
• NG_030017.1:g.86597C>T
• NG_030017.2:g.86595C>T
• NM_001160302.2:c.3195C>T
• NM_001160306.2:c.3180C>T
• NM_003895.4:c.3312C>T
• NM_203446.3:c.3195C>TMANE SELECT
• NP_001153774.1:p.Pro1065=
• NP_001153778.1:p.Pro1060=
• NP_003886.3:p.Pro1104=
• NP_982271.3:p.Pro1065=
• NC_000021.8:g.34018755G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs763564076

NCBI 1000 Genomes Browser:

rs763564076

Molecular consequence:

• NM_001160302.2:c.3195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160306.2:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003895.4:c.3312C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_203446.3:c.3195C>T - synonymous variant - [Sequence Ontology: SO:0001819]