ClinVar

NM_203446.3(SYNJ1):c.3746C>T (p.Pro1249Leu)

Gene:

SYNJ1:synaptojanin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

• Chr21: 32639077 (on Assembly GRCh38)
• Chr21: 34011387 (on Assembly GRCh37)

Preferred name:

NM_203446.3(SYNJ1):c.3746C>T (p.Pro1249Leu)

HGVS:

• NC_000021.9:g.32639077G>A
• NG_030017.2:g.93963C>T
• NM_001160302.2:c.3698C>T
• NM_001160306.2:c.3605C>T
• NM_003895.4:c.3863C>T
• NM_203446.3:c.3746C>TMANE SELECT
• NP_001153774.1:p.Pro1233Leu
• NP_001153774.1:p.Pro1233Leu
• NP_001153778.1:p.Pro1202Leu
• NP_003886.3:p.Pro1288Leu
• NP_003886.3:p.Pro1288Leu
• NP_982271.3:p.Pro1249Leu
• NC_000021.8:g.34011387G>A
• NG_030017.1:g.93965C>T
• NM_001160302.1:c.3698C>T
• NM_003895.3:c.3863C>T

This HGVS expression did not pass validation

Protein change:

P1202L

Links:

dbSNP: rs149288077

NCBI 1000 Genomes Browser:

rs149288077

Molecular consequence:

• NM_001160302.2:c.3698C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160306.2:c.3605C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003895.4:c.3863C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_203446.3:c.3746C>T - missense variant - [Sequence Ontology: SO:0001583]