ClinVar

NM_004519.4(KCNQ3):c.*5391C>T

Gene:

KCNQ3:potassium voltage-gated channel subfamily Q member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.22

Genomic location:

• Chr8: 132123871 (on Assembly GRCh38)
• Chr8: 133136118 (on Assembly GRCh37)

Preferred name:

NM_004519.4(KCNQ3):c.*5391C>T

HGVS:

• NC_000008.11:g.132123871G>A
• NG_008854.2:g.361887C>T
• NM_001204824.2:c.*5391C>T
• NM_004519.4:c.*5391C>TMANE SELECT
• NC_000008.10:g.133136118G>A
• NM_004519.3:c.*5391C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs569024726

NCBI 1000 Genomes Browser:

rs569024726

Molecular consequence:

• NM_001204824.2:c.*5391C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_004519.4:c.*5391C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

2