ClinVar

NM_032776.3(JMJD1C):c.7200C>G (p.Asp2400Glu)

Gene:

JMJD1C:jumonji domain containing 1C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 63177741 (on Assembly GRCh38)
• Chr10: 64937501 (on Assembly GRCh37)

Preferred name:

NM_032776.3(JMJD1C):c.7200C>G (p.Asp2400Glu)

HGVS:

• NC_000010.11:g.63177741G>C
• NG_053187.1:g.349335C>G
• NM_001282948.2:c.6654C>G
• NM_001318153.2:c.6336C>G
• NM_001318154.2:c.6654C>G
• NM_001322252.2:c.7086C>G
• NM_001322254.2:c.6543C>G
• NM_001322258.2:c.6543C>G
• NM_032776.3:c.7200C>GMANE SELECT
• NP_001269877.1:p.Asp2218Glu
• NP_001305082.1:p.Asp2112Glu
• NP_001305083.1:p.Asp2218Glu
• NP_001309181.1:p.Asp2362Glu
• NP_001309183.1:p.Asp2181Glu
• NP_001309187.1:p.Asp2181Glu
• NP_116165.1:p.Asp2400Glu
• NC_000010.10:g.64937501G>C
• NM_032776.2:c.7200C>G
• NR_134512.2:n.6972C>G

This HGVS expression did not pass validation

Protein change:

D2112E

Links:

dbSNP: rs34491125

NCBI 1000 Genomes Browser:

rs34491125

Molecular consequence:

• NM_001282948.2:c.6654C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318153.2:c.6336C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318154.2:c.6654C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322252.2:c.7086C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322254.2:c.6543C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322258.2:c.6543C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_032776.3:c.7200C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_134512.2:n.6972C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]