ClinVar

NM_000219.6(KCNE1):c.315G>A (p.Ser105=)

Gene:

KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34449320 (on Assembly GRCh38)
• Chr21: 35821618 (on Assembly GRCh37)

Preferred name:

NM_000219.6(KCNE1):c.315G>A (p.Ser105=)

HGVS:

• NC_000021.9:g.34449320C>T
• NG_009091.1:g.66996G>A
• NM_000219.6:c.315G>AMANE SELECT
• NM_001127668.4:c.315G>A
• NM_001127669.4:c.315G>A
• NM_001127670.4:c.315G>A
• NM_001270402.3:c.315G>A
• NM_001270403.2:c.315G>A
• NM_001270404.3:c.315G>A
• NM_001270405.3:c.315G>A
• NP_000210.2:p.Ser105=
• NP_001121140.1:p.Ser105=
• NP_001121141.1:p.Ser105=
• NP_001121142.1:p.Ser105=
• NP_001257331.1:p.Ser105=
• NP_001257332.1:p.Ser105=
• NP_001257333.1:p.Ser105=
• NP_001257334.1:p.Ser105=
• LRG_290t1:c.315G>A
• LRG_290:g.66996G>A
• NC_000021.8:g.35821618C>T
• NM_000219.3:c.315G>A
• NM_000219.5:c.315G>A
• p.Ser105Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs563859144

NCBI 1000 Genomes Browser:

rs563859144

Molecular consequence:

• NM_000219.6:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127668.4:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127669.4:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127670.4:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270402.3:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270403.2:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270404.3:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270405.3:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1