ClinVar

NM_213653.4(HJV):c.1068T>C (p.Ala356=)

Gene:

HJV:hemojuvelin BMP co-receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.1

Genomic location:

• Chr1: 146018290 (on Assembly GRCh38)
• Chr1: 145416723 (on Assembly GRCh37)

Preferred name:

NM_213653.4(HJV):c.1068T>C (p.Ala356=)

HGVS:

• NC_000001.11:g.146018290A>G
• NG_011568.1:g.8533T>C
• NM_001316767.2:c.390T>C
• NM_001379352.1:c.1068T>C
• NM_145277.5:c.729T>C
• NM_202004.4:c.390T>C
• NM_213652.4:c.390T>C
• NM_213653.4:c.1068T>CMANE SELECT
• NP_001303696.1:p.Ala130=
• NP_001366281.1:p.Ala356=
• NP_660320.3:p.Ala243=
• NP_973733.1:p.Ala130=
• NP_998817.1:p.Ala130=
• NP_998818.1:p.Ala356=
• NP_998818.1:p.Ala356=
• NC_000001.10:g.145416723T>C
• NM_213653.3:c.1068T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs148998327

NCBI 1000 Genomes Browser:

rs148998327

Molecular consequence:

• NM_001316767.2:c.390T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379352.1:c.1068T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145277.5:c.729T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_202004.4:c.390T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_213652.4:c.390T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_213653.4:c.1068T>C - synonymous variant - [Sequence Ontology: SO:0001819]