ClinVar

NM_203446.3(SYNJ1):c.3639G>A (p.Arg1213=)

Gene:

SYNJ1:synaptojanin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

• Chr21: 32639729 (on Assembly GRCh38)
• Chr21: 34012039 (on Assembly GRCh37)

Preferred name:

NM_203446.3(SYNJ1):c.3639G>A (p.Arg1213=)

HGVS:

• NC_000021.9:g.32639729C>T
• NG_030017.1:g.93313G>A
• NG_030017.2:g.93311G>A
• NM_001160302.2:c.3591G>A
• NM_001160306.2:c.3498G>A
• NM_003895.4:c.3756G>A
• NM_203446.3:c.3639G>AMANE SELECT
• NP_001153774.1:p.Arg1197=
• NP_001153778.1:p.Arg1166=
• NP_003886.3:p.Arg1252=
• NP_982271.3:p.Arg1213=
• NC_000021.8:g.34012039C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs745882722

NCBI 1000 Genomes Browser:

rs745882722

Molecular consequence:

• NM_001160302.2:c.3591G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160306.2:c.3498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003895.4:c.3756G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_203446.3:c.3639G>A - synonymous variant - [Sequence Ontology: SO:0001819]