ClinVar

NM_198695.2(KRTAP10-8):c.752G>A (p.Arg251His)

Genes:

KRTAP10-8:keratin associated protein 10-8 [Gene - HGNC]
TSPEAR:thrombospondin type laminin G domain and EAR repeats [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44612852 (on Assembly GRCh38)
• Chr21: 46032769 (on Assembly GRCh37)

Preferred name:

NM_198695.2(KRTAP10-8):c.752G>A (p.Arg251His)

HGVS:

• NC_000021.9:g.44612852G>A
• NG_033806.1:g.103727C>T
• NG_033806.2:g.103720C>T
• NG_148211.1:g.235G>A
• NM_001272037.2:c.-122-44847C>T
• NM_144991.3:c.83-44847C>TMANE SELECT
• NM_198695.2:c.752G>AMANE SELECT
• NP_941968.2:p.Arg251His
• NC_000021.8:g.46032769G>A

This HGVS expression did not pass validation

Protein change:

R251H

Molecular consequence:

• NM_001272037.2:c.-122-44847C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_144991.3:c.83-44847C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_198695.2:c.752G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1