ClinVar

NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58207170 (on Assembly GRCh38)
• Chr17: 56284531 (on Assembly GRCh37)

Preferred name:

NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)

HGVS:

• NC_000017.11:g.58207170G>A
• NG_013020.1:g.19443G>A
• NG_013032.1:g.17436C>T
• NM_001321268.2:c.713C>T
• NM_001321269.2:c.1322C>T
• NM_001330397.2:c.1273+724C>T
• NM_017777.4:c.1322C>TMANE SELECT
• NP_001308197.1:p.Thr238Met
• NP_001308198.1:p.Thr441Met
• NP_060247.2:p.Thr441Met
• NP_060247.2:p.Thr441Met
• LRG_687t1:c.1322C>T
• LRG_687:g.17436C>T
• LRG_687p1:p.Thr441Met
• NC_000017.10:g.56284531G>A
• NM_017777.3:c.1322C>T

This HGVS expression did not pass validation

Protein change:

T238M

Links:

dbSNP: rs367625961

NCBI 1000 Genomes Browser:

rs367625961

Molecular consequence:

• NM_001330397.2:c.1273+724C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321268.2:c.713C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321269.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017777.4:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3