ClinVar

NM_001829.4(CLCN3):c.755T>C (p.Ile252Thr)

Gene:

CLCN3:chloride voltage-gated channel 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q33

Genomic location:

• Chr4: 169692139 (on Assembly GRCh38)
• Chr4: 170613290 (on Assembly GRCh37)

Preferred name:

NM_001829.4(CLCN3):c.755T>C (p.Ile252Thr)

HGVS:

• NC_000004.12:g.169692139T>C
• NG_029731.1:g.76619T>C
• NM_001243372.2:c.755T>C
• NM_001243374.2:c.674T>C
• NM_001829.4:c.755T>CMANE SELECT
• NM_173872.4:c.755T>C
• NP_001230301.1:p.Ile252Thr
• NP_001230303.2:p.Ile225Thr
• NP_001820.2:p.Ile252Thr
• NP_776297.2:p.Ile252Thr
• NC_000004.11:g.170613290T>C
• NM_001829.3:c.755T>C

This HGVS expression did not pass validation

Protein change:

I225T

Links:

dbSNP: rs1732397227

NCBI 1000 Genomes Browser:

rs1732397227

Molecular consequence:

• NM_001243372.2:c.755T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243374.2:c.674T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001829.4:c.755T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_173872.4:c.755T>C - missense variant - [Sequence Ontology: SO:0001583]