ClinVar

NM_001077365.2(POMT1):c.970G>A (p.Asp324Asn)

Gene:

POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 131511451 (on Assembly GRCh38)
• Chr9: 134386838 (on Assembly GRCh37)

Preferred name:

NM_001077365.2(POMT1):c.970G>A (p.Asp324Asn)

HGVS:

• NC_000009.12:g.131511451G>A
• NG_008896.1:g.13550G>A
• NM_001077365.2:c.970G>AMANE SELECT
• NM_001077366.2:c.808G>A
• NM_001136113.2:c.970G>A
• NM_001136114.2:c.619G>A
• NM_001353193.2:c.1036G>A
• NM_001353194.2:c.808G>A
• NM_001353195.2:c.619G>A
• NM_001353196.2:c.880G>A
• NM_001353197.2:c.874G>A
• NM_001353198.2:c.874G>A
• NM_001353199.2:c.685G>A
• NM_001353200.2:c.514G>A
• NM_001374689.1:c.953G>A
• NM_001374690.1:c.970G>A
• NM_001374691.1:c.619G>A
• NM_001374692.1:c.619G>A
• NM_001374693.1:c.808G>A
• NM_001374695.1:c.580G>A
• NM_007171.3:c.1036G>A
• NM_007171.4:c.1036G>A
• NP_001070833.1:p.Asp324Asn
• NP_001070834.1:p.Asp270Asn
• NP_001129585.1:p.Asp324Asn
• NP_001129586.1:p.Asp207Asn
• NP_001340122.2:p.Asp346Asn
• NP_001340123.1:p.Asp270Asn
• NP_001340124.1:p.Asp207Asn
• NP_001340125.1:p.Asp294Asn
• NP_001340126.2:p.Asp292Asn
• NP_001340127.2:p.Asp292Asn
• NP_001340128.2:p.Asp229Asn
• NP_001340129.1:p.Asp172Asn
• NP_001361618.1:p.Gly318Glu
• NP_001361619.1:p.Asp324Asn
• NP_001361620.1:p.Asp207Asn
• NP_001361621.1:p.Asp207Asn
• NP_001361622.1:p.Asp270Asn
• NP_001361624.1:p.Asp194Asn
• NP_009102.4:p.Asp346Asn
• LRG_842t1:c.1036G>A
• LRG_842t2:c.970G>A
• LRG_842p1:p.Asp346Asn
• LRG_842p2:p.Asp324Asn
• NC_000009.11:g.134386838G>A
• NR_148391.2:n.1004G>A
• NR_148392.2:n.1222G>A
• NR_148393.2:n.1004G>A
• NR_148394.2:n.892G>A
• NR_148395.2:n.1156G>A
• NR_148396.2:n.785G>A
• NR_148397.2:n.1049G>A
• NR_148398.2:n.1004G>A
• NR_148399.2:n.1396G>A
• NR_148400.2:n.990G>A

This HGVS expression did not pass validation

Protein change:

D172N

Links:

dbSNP: rs886042459

NCBI 1000 Genomes Browser:

rs886042459

Molecular consequence:

• NM_001077365.2:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077366.2:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136113.2:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136114.2:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353193.2:c.1036G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353194.2:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353195.2:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353196.2:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353197.2:c.874G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353198.2:c.874G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353199.2:c.685G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353200.2:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374689.1:c.953G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374690.1:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374691.1:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374692.1:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374693.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374695.1:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007171.4:c.1036G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_148391.2:n.1004G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148392.2:n.1222G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148393.2:n.1004G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148394.2:n.892G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148395.2:n.1156G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148396.2:n.785G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148397.2:n.1049G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148398.2:n.1004G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148399.2:n.1396G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148400.2:n.990G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1