ClinVar

NM_017777.4(MKS1):c.822G>A (p.Pro274=)

Gene:

MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58213018 (on Assembly GRCh38)
• Chr17: 56290379 (on Assembly GRCh37)

Preferred name:

NM_017777.4(MKS1):c.822G>A (p.Pro274=)

HGVS:

• NC_000017.11:g.58213018C>T
• NG_013032.1:g.11588G>A
• NM_001321268.2:c.213G>A
• NM_001321269.2:c.822G>A
• NM_001330397.2:c.822G>A
• NM_017777.3:c.822G>A
• NM_017777.4:c.822G>AMANE SELECT
• NP_001308197.1:p.Pro71=
• NP_001308198.1:p.Pro274=
• NP_001317326.1:p.Pro274=
• NP_060247.2:p.Pro274=
• LRG_687t1:c.822G>A
• LRG_687t2:c.792G>A
• LRG_687:g.11588G>A
• LRG_687p2:p.Pro264=
• NC_000017.10:g.56290379C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs375557871

NCBI 1000 Genomes Browser:

rs375557871

Molecular consequence:

• NM_001321268.2:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321269.2:c.822G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330397.2:c.822G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017777.4:c.822G>A - synonymous variant - [Sequence Ontology: SO:0001819]